CBX1

CBX1 chromobox 1

Annotation transcript: NM_001127228.2

264 unique variant annotations were identified in 214 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-46147491-A-T c.*1306T>A - 3-UTRSNV 5/5 - 1
17-46147807-T-A c.*990A>T - 3-UTRSNV 5/5 - 4
17-46147945-G-A c.*852C>T - 3-UTRSNV 5/5 - 3
17-46148155-C-T c.*642G>A - 3-UTRSNV 5/5 - 3
17-46148407-C-T c.*390G>A - 3-UTRSNV 5/5 - 1
17-46148800-G-T c.555C>A p.N185K Missense 5/5 - 1
17-46148800-GTTC-G c.552_554del p.K184del InFrameDeletion 5/5 - 1
17-46148811-C-A c.544G>T p.D182Y Missense 5/5 - 4
17-46148811-C-CA c.543_544insT p.D182* Nonsense 5/5 - 1
17-46148811-C-G c.544G>C p.D182H Missense 5/5 - 2
17-46148811-TC-T c.544del p.D182Mfs*30 Frameshift 5/5 - 2
17-46148814-T-TA c.540_541insT p.K181* Nonsense 5/5 - 1
17-46148815-T-C c.540A>G p.K180= Synonymous 5/5 - 1
17-46148811-CT-C c.543del p.D182Mfs*30 Frameshift 5/5 - 1
17-46148823-C-A c.532G>T p.D178Y Missense 5/5 - 1
17-46148823-C-T c.532G>A p.D178N Missense 5/5 - 1
17-46148830-C-A c.525G>T p.S175= Synonymous 5/5 - 2
17-46148830-C-G c.525G>C p.S175= Synonymous 5/5 - 2
17-46148830-C-T c.525G>A p.S175= Synonymous 5/5 - 4
17-46148831-G-T c.524C>A p.S175* Nonsense 5/5 - 1
17-46148835-G-C c.520C>G p.P174A Missense 5/5 - 1
17-46148846-CA-GC c.508_509delinsGC p.W170A Missense 5/5 - 2
17-46148846-CA-TC c.508_509delinsGA p.W170E Missense 5/5 - 1
17-46148849-G-T c.506C>A p.T169K Missense 5/5 - 2
17-46148852-AG-TA c.502_503delinsTA p.L168* Nonsense 5/5 - 1
17-46148855-C-T c.500G>A p.R167K Missense 5/5 - 1
17-46148858-T-C c.497A>G p.E166G Missense 5/5 - 1
17-46148863-ATA-CTC c.490_492delinsGAG p.Y164E Missense 5/5 - 1
17-46148864-TA-AG c.490_491delinsCT p.Y164L Missense 5/5 - 1
17-46148872-T-A c.483A>T p.I161= Synonymous 5/5 - 3
17-46148872-T-G c.483A>C p.I161= Synonymous 5/5 - 2
17-46148873-A-G c.482T>C p.I161T Missense 5/5 - 2
17-46148873-AT-GC c.481_482delinsGC p.I161A Missense 5/5 - 2
17-46148873-AT-TC c.481_482delinsGA p.I161E Missense 5/5 - 2
17-46148883-G-A c.472C>T p.Q158* Nonsense 5/5 - 1
17-46148888-C-A c.467G>T p.C156F Missense 5/5 - 1
17-46148890-C-T c.465G>A p.K155= Synonymous 5/5 - 2
17-46148895-C-A c.460G>T p.V154F Missense 5/5 - 1
17-46148895-C-G c.460G>C p.V154L Missense 5/5 - 1
17-46148904-C-T c.451G>A p.E151K Missense 5/5 - 4
17-46148905-C-A c.450G>T p.K150N Missense 5/5 - 2
17-46148905-C-G c.450G>C p.K150N Missense 5/5 - 2
17-46148905-C-T c.450G>A p.K150= Synonymous 5/5 - 1
17-46148914-GAC-CAT c.439_441delinsATG p.V147M Missense 5/5 - 1
17-46148914-GAC-CTT c.439_441delinsAAG p.V147K Missense 5/5 - 1
17-46148914-GAC-TTG c.439_441delinsCAA p.V147Q Missense 5/5 - 1
17-46148915-A-C c.440T>G p.V147G Missense 5/5 - 1
17-46148915-AC-CA c.439_440delinsTG p.V147C Missense 5/5 - 1
17-46148915-AC-CG c.439_440delinsCG p.V147R Missense 5/5 - 1
17-46148915-AC-CT c.439_440delinsAG p.V147S Missense 5/5 - 1
17-46148915-AC-GG c.439_440delinsCC p.V147P Missense 5/5 - 1
17-46148915-AC-GT c.439_440inv p.V147T Missense 5/5 - 1
17-46148915-AC-TG c.439_440delinsCA p.V147H Missense 5/5 - 1
17-46148915-AC-TT c.439_440delinsAA p.V147N Missense 5/5 - 1
17-46148915-A-G c.440T>C p.V147A Missense 5/5 - 1
17-46148916-C-G c.439G>C p.V147L Missense 5/5 - 1
17-46148916-C-T c.439G>A p.V147I Missense 5/5 - 1
17-46148918-AG-TT c.436_437delinsAA p.L146K Missense 5/5 - 1
17-46148922-C-T c.433G>A p.D145N Missense 5/5 - 1
17-46148926-C-T c.429G>A p.E143= Synonymous 5/5 - 1
17-46148933-G-A c.422C>T p.S141F Missense 5/5 - 3
17-46148940-T-C c.415A>G p.K139E Missense 5/5 - 1
17-46150861-T-C c.413+1507A>G - IntronicSNV - 4/4 1
17-46150861-T-G c.413+1507A>C - IntronicSNV - 4/4 1
17-46152291-G-A c.413+77C>T - IntronicSNV - 4/4 3
17-46152322-T-C c.413+46A>G - IntronicSNV - 4/4 3
17-46152333-A-G c.413+35T>C - IntronicSNV - 4/4 1
17-46152355-C-A c.413+13G>T - IntronicSNV - 4/4 1
17-46152355-C-G c.413+13G>C - IntronicSNV - 4/4 2
17-46152355-C-T c.413+13G>A - IntronicSNV - 4/4 1
17-46148941-C-T c.414G>A p.W138* Nonsense 5/5 - 1
17-46152368-C-A c.413G>T p.W138L Missense 4/5 - 1
17-46152368-C-T c.413G>A p.W138* Nonsense 4/5 - 1
17-46152375-T-C c.406A>G p.M136V Missense 4/5 - 1
17-46152376-C-A c.405G>T p.L135= Synonymous 4/5 - 1
17-46152376-C-G c.405G>C p.L135= Synonymous 4/5 - 1
17-46152376-C-T c.405G>A p.L135= Synonymous 4/5 - 1
17-46152378-G-A c.403C>T p.L135= Synonymous 4/5 - 2
17-46152395-CT-GC c.385_386delinsGC p.S129A Missense 4/5 - 1
17-46152408-C-T c.373G>A p.A125T Missense 4/5 - 2
17-46152410-C-G c.371G>C p.G124A Missense 4/5 - 3
17-46152411-C-T c.370G>A p.G124R Missense 4/5 - 1
17-46152414-T-G c.367A>C p.I123L Missense 4/5 - 1
17-46152419-C-T c.362G>A p.R121Q Missense 4/5 - 1
17-46152420-G-A c.361C>T p.R121W Missense 4/5 - 2
17-46152422-T-A c.359A>T p.E120V Missense 4/5 - 1
17-46152423-C-T c.358G>A p.E120K Missense 4/5 - 9
17-46152424-C-T c.357G>A p.P119= Synonymous 4/5 - 1
17-46152425-G-A c.356C>T p.P119L Missense 4/5 - 1
17-46152426-G-A c.355C>T p.P119S Missense 4/5 - 1
17-46152427-C-T c.354G>A p.E118= Synonymous 4/5 - 1
17-46152436-TC-AT c.344_345delinsAT p.R115H Missense 4/5 - 1
17-46152436-T-A c.345A>T p.R115= Synonymous 4/5 - 1
17-46152436-T-C c.345A>G p.R115= Synonymous 4/5 - 1
17-46152436-T-G c.345A>C p.R115= Synonymous 4/5 - 1
17-46152438-G-A c.343C>T p.R115* Nonsense 4/5 - 1
17-46152438-G-T c.343C>A p.R115= Synonymous 4/5 - 1
17-46152441-C-G c.340G>C p.A114P Missense 4/5 - 1
17-46152441-C-T c.340G>A p.A114T Missense 4/5 - 2
17-46152445-GC-G c.335del p.G112Afs*24 Frameshift 4/5 - 2
17-46152450-G-A c.331C>T p.R111* Nonsense 4/5 - 3
17-46152451-T-A c.330A>T p.P110= Synonymous 4/5 - 1
17-46152451-T-C c.330A>G p.P110= Synonymous 4/5 - 1
17-46152451-T-G c.330A>C p.P110= Synonymous 4/5 - 1
17-46152458-T-C c.323A>G p.E108G Missense 4/5 - 1
17-46152559-C-A c.319-97G>T - IntronicSNV - 3/4 4
17-46152559-C-T c.319-97G>A - IntronicSNV - 3/4 4
17-46152574-T-TTTA c.319-113_319-112insTAA - IntronicInsertion - 3/4 1
17-46152715-T-TC c.319-254dup - IntronicInsertion - 3/4 1
17-46152717-A-C c.319-255T>G - IntronicSNV - 3/4 1
17-46152717-A-G c.319-255T>C - IntronicSNV - 3/4 1
17-46153028-C-CA c.318+334dup - IntronicInsertion - 3/4 1
17-46153296-C-G c.318+67G>C - IntronicSNV - 3/4 1
17-46153296-C-T c.318+67G>A - IntronicSNV - 3/4 3
17-46153370-T-C c.311A>G p.K104R Missense 3/5 - 1
17-46153372-C-A c.309G>T p.K103N Missense 3/5 - 3
17-46153372-C-G c.309G>C p.K103N Missense 3/5 - 1
17-46153373-T-C c.308A>G p.K103R Missense 3/5 - 1
17-46153378-C-G c.303G>C p.K101N Missense 3/5 - 2
17-46153379-TT-GC c.301_302delinsGC p.K101A Missense 3/5 - 1
17-46153387-G-A c.294C>T p.S98= Synonymous 3/5 - 2
17-46153388-CT-GC c.292_293delinsGC p.S98A Missense 3/5 - 1
17-46153392-C-T c.289G>A p.E97K Missense 3/5 - 1
17-46153395-C-G c.286G>C p.E96Q Missense 3/5 - 1
17-46153395-C-T c.286G>A p.E96K Missense 3/5 - 1
17-46153402-A-C c.279T>G p.D93E Missense 3/5 - 1
17-46153402-A-T c.279T>A p.D93E Missense 3/5 - 1
17-46153404-C-T c.277G>A p.D93N Missense 3/5 - 2
17-46153412-T-G c.269A>C p.D90A Missense 3/5 - 1
17-46153414-A-C c.267T>G p.S89= Synonymous 3/5 - 1
17-46153414-A-G c.267T>C p.S89= Synonymous 3/5 - 1
17-46153414-A-T c.267T>A p.S89= Synonymous 3/5 - 1
17-46153416-A-G c.265T>C p.S89P Missense 3/5 - 2
17-46153427-C-T c.254G>A p.R85H Missense 3/5 - 1
17-46153428-G-A c.253C>T p.R85C Missense 3/5 - 1
17-46153437-C-A c.244G>T p.G82* Nonsense 3/5 - 1
17-46153439-T-G c.242A>C p.E81A Missense 3/5 - 1
17-46153444-T-C c.237A>G p.K79= Synonymous 3/5 - 1
17-46153449-C-T c.232G>A p.D78N Missense 3/5 - 1
17-46153455-C-A c.226G>T p.E76* Nonsense 3/5 - 1
17-46153455-C-T c.226G>A p.E76K Missense 3/5 - 2
17-46153459-T-C c.222A>G p.A74= Synonymous 3/5 - 2
17-46153470-G-A c.211C>T p.Q71* Nonsense 3/5 - 3
17-46153470-G-T c.211C>A p.Q71K Missense 3/5 - 2
17-46153478-AG-GC c.202_203delinsGC p.L68A Missense 3/5 - 1
17-46153481-A-C c.200T>G p.F67C Missense 3/5 - 1
17-46153480-A-C c.201T>G p.F67L Missense 3/5 - 1
17-46153480-A-T c.201T>A p.F67L Missense 3/5 - 1
17-46153482-A-G c.199T>C p.F67L Missense 3/5 - 1
17-46153484-T-C c.197A>G p.E66G Missense 3/5 - 1
17-46153484-T-G c.197A>C p.E66A Missense 3/5 - 1
17-46153487-G-T c.194C>A p.A65D Missense 3/5 - 1
17-46153489-AAT-TTA c.190_192delinsTAA p.I64* Nonsense 3/5 - 3
17-46153490-AT-CA c.190_191delinsTG p.I64C Missense 3/5 - 1
17-46153494-G-A c.187C>T p.L63F Missense 3/5 - 1
17-46153496-TC-AA c.184_185delinsTT p.D62F Missense 3/5 - 1
17-46153497-C-T c.184G>A p.D62N Missense 3/5 - 3
17-46153498-G-A c.183C>T p.P61= Synonymous 3/5 - 1
17-46153500-G-C c.181C>G p.P61A Missense 3/5 - 1
17-46153501-G-A c.180C>T p.C60= Synonymous 3/5 - 1
17-46153502-C-A c.179G>T p.C60F Missense 3/5 - 1
17-46153505-TC-AA c.175_176delinsTT p.D59F Missense 3/5 - 1
17-46153505-TC-CT c.175_176delinsAG p.D59S Missense 3/5 - 1
17-46153510-GTT-TTA c.169_171delinsTAA p.N57* Nonsense 3/5 - 1
17-46153513-C-A c.168G>T p.E56D Missense 3/5 - 1
17-46153513-C-G c.168G>C p.E56D Missense 3/5 - 1
17-46153516-T-A c.165A>T p.E55D Missense 3/5 - 2
17-46153516-T-G c.165A>C p.E55D Missense 3/5 - 3
17-46153518-C-G c.163G>C p.E55Q Missense 3/5 - 1
17-46153522-C-A c.159G>T p.E53D Missense 3/5 - 1
17-46153522-C-G c.159G>C p.E53D Missense 3/5 - 1
17-46153522-C-T c.159G>A p.E53= Synonymous 3/5 - 1
17-46153525-C-A c.156G>T p.W52C Missense 3/5 - 1
17-46153525-C-T c.156G>A p.W52* Nonsense 3/5 - 1
17-46153526-C-T c.155G>A p.W52* Nonsense 3/5 - 1
17-46153530-T-C c.151A>G p.T51A Missense 3/5 - 1
17-46153531-G-A c.150C>T p.N50= Synonymous 3/5 - 1
17-46153532-T-C c.149A>G p.N50S Missense 3/5 - 1
17-46153539-C-G c.142G>C p.E48Q Missense 3/5 - 1
17-46153580-A-G c.141-40T>C - IntronicSNV - 2/4 3
17-46153747-G-A c.141-207C>T - IntronicSNV - 2/4 4
17-46154202-A-C c.140+25T>G - IntronicSNV - 2/4 2
17-46154202-A-G c.140+25T>C - IntronicSNV - 2/4 4
17-46154227-T-C c.140A>G p.D47G Missense 2/5 - 1
17-46154229-TGA-GTT c.136_138delinsAAC p.S46N Missense 2/5 - 1
17-46154230-G-A c.137C>T p.S46L Missense 2/5 - 1
17-46154232-G-T c.135C>A p.F45L Missense 2/5 - 3
17-46154233-AA-GC c.133_134delinsGC p.F45A Missense 2/5 - 1
17-46154232-G-C c.135C>G p.F45L Missense 2/5 - 2
17-46154234-A-G c.133T>C p.F45L Missense 2/5 - 2
17-46154242-C-A c.125G>T p.W42L Missense 2/5 - 1
17-46154242-CA-GC c.124_125delinsGC p.W42A Missense 2/5 - 2
17-46154244-CTT-GTC c.121_123delinsGAC p.K41D Missense 2/5 - 1
17-46154251-A-G c.116T>C p.L39P Missense 2/5 - 1
17-46154252-G-A c.115C>T p.L39F Missense 2/5 - 1
17-46154253-G-C c.114C>G p.Y38* Nonsense 2/5 - 1
17-46154253-G-T c.114C>A p.Y38* Nonsense 2/5 - 1
17-46154261-C-T c.106G>A p.V36M Missense 2/5 - 1
17-46154265-GCC-CCA c.100_102delinsTGG p.G34W Missense 2/5 - 1
17-46154267-C-T c.100G>A p.G34S Missense 2/5 - 3
17-46154269-TT-GC c.97_98delinsGC p.K33A Missense 2/5 - 1
17-46154270-T-C c.97A>G p.K33E Missense 2/5 - 2
17-46154270-T-G c.97A>C p.K33Q Missense 2/5 - 1
17-46154272-A-G c.95T>C p.V32A Missense 2/5 - 2
17-46154273-C-T c.94G>A p.V32I Missense 2/5 - 2
17-46154277-TCG-ACA c.88_90delinsTGT p.R30C Missense 2/5 - 1
17-46154278-CG-GC c.88_89delinsGC p.R30A Missense 2/5 - 1
17-46154279-G-A c.88C>T p.R30* Nonsense 2/5 - 2
17-46154279-G-T c.88C>A p.R30= Synonymous 2/5 - 1
17-46154283-GTC-CTT c.82_84delinsAAG p.D28K Missense 2/5 - 1
17-46154285-C-T c.82G>A p.D28N Missense 2/5 - 2
17-46154286-GAG-CAT c.79_81delinsATG p.L27M Missense 2/5 - 1
17-46154288-G-T c.79C>A p.L27I Missense 2/5 - 2
17-46154293-TT-GC c.73_74delinsGC p.K25A Missense 2/5 - 1
17-46154294-T-C c.73A>G p.K25E Missense 2/5 - 2
17-46154295-T-A c.72A>T p.E24D Missense 2/5 - 2
17-46154295-T-G c.72A>C p.E24D Missense 2/5 - 2
17-46154297-C-G c.70G>C p.E24Q Missense 2/5 - 1
17-46154299-A-G c.68T>C p.V23A Missense 2/5 - 1
17-46154300-C-T c.67G>A p.V23M Missense 2/5 - 3
17-46154301-C-A c.66G>T p.V22= Synonymous 2/5 - 1
17-46154301-C-G c.66G>C p.V22= Synonymous 2/5 - 1
17-46154301-C-T c.66G>A p.V22= Synonymous 2/5 - 1
17-46154302-AC-TA c.64_65delinsTA p.V22* Nonsense 2/5 - 1
17-46154302-A-T c.65T>A p.V22E Missense 2/5 - 1
17-46154307-T-A c.60A>T p.E20D Missense 2/5 - 1
17-46154307-T-G c.60A>C p.E20D Missense 2/5 - 2
17-46154308-T-C c.59A>G p.E20G Missense 2/5 - 1
17-46154309-C-T c.58G>A p.E20K Missense 2/5 - 1
17-46154311-T-G c.56A>C p.E19A Missense 2/5 - 1
17-46154312-C-G c.55G>C p.E19Q Missense 2/5 - 1
17-46154313-T-C c.54A>G p.E18= Synonymous 2/5 - 1
17-46154315-C-T c.52G>A p.E18K Missense 2/5 - 2
17-46154321-C-T c.46G>A p.E16K Missense 2/5 - 3
17-46154323-T-G c.44A>C p.E15A Missense 2/5 - 1
17-46154328-C-A c.39G>T p.V13= Synonymous 2/5 - 1
17-46154328-C-G c.39G>C p.V13= Synonymous 2/5 - 1
17-46154328-C-T c.39G>A p.V13= Synonymous 2/5 - 1
17-46154329-A-G c.38T>C p.V13A Missense 2/5 - 1
17-46154334-CTC-ACA c.31_33delinsTGT p.E11C Missense 2/5 - 1
17-46154335-T-G c.32A>C p.E11A Missense 2/5 - 1
17-46154338-AC-TT c.28_29delinsAA p.V10K Missense 2/5 - 1
17-46154339-C-T c.28G>A p.V10M Missense 2/5 - 1
17-46154338-ACTTT-A c.25_28del p.K9Wfs*5 Frameshift 2/5 - 1
17-46154340-T-TTTA c.26_27insTAA p.K8_K9insN InFrameInsertion 2/5 - 1
17-46154347-T-A c.20A>T p.K7M Missense 2/5 - 1
17-46154353-T-G c.14A>C p.Q5P Missense 2/5 - 1
17-46154357-T-TA c.9_10insT p.K4* Nonsense 2/5 - 1
17-46154354-G-GT c.12dup p.Q5Tfs*44 Frameshift 2/5 - 2
17-46154354-GT-G c.12del p.K4Nfs*11 Frameshift 2/5 - 5
17-46154363-C-A c.4G>T p.G2W Missense 2/5 - 1
17-46155786-C-T c.-37-1383G>A - IntronicSNV - 1/4 2
17-46156072-C-A c.-37-1669G>T - IntronicSNV - 1/4 1
17-46156072-C-G c.-37-1669G>C - IntronicSNV - 1/4 1
17-46158050-T-A c.-37-3647A>T - IntronicSNV - 1/4 1
17-46158050-T-C c.-37-3647A>G - IntronicSNV - 1/4 1
17-46166073-G-A c.-37-11670C>T - IntronicSNV - 1/4 1
17-46167006-T-A c.-38+11624A>T - intron_variant - 1/4 1
17-46169050-C-G c.-38+9580G>C - intron_variant - 1/4 1
17-46169050-C-T c.-38+9580G>A - intron_variant - 1/4 1
17-46173840-G-A c.-38+4790C>T - intron_variant - 1/4 2
17-46174070-G-T c.-38+4560C>A - intron_variant - 1/4 1
17-46178674-G-A c.-82C>T - 5_prime_UTR_variant 1/5 - 7
17-46178674-G-C c.-82C>G - 5_prime_UTR_variant 1/5 - 7