APOA5 apolipoprotein A5

Canonical transcript: NM_001166598

84 unique variant annotations were identified in 248 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
11-116660450-A-G c.*394T>C - 3-UTRSNV 4/4 - 2
11-116660558-TC-TCTC c.*288_*289dup - 3-UTRInsertion 4/4 - 1
11-116660558-T-TTC c.*285_*286insGA - 3-UTRInsertion 4/4 - 1
11-116660686-G-A c.*158C>T - 3-UTRSNV 4/4 - 56
11-116660768-G-A c.*76C>T - 3-UTRSNV 4/4 - 3
11-116660785-G-T c.*59C>A - 3-UTRSNV 4/4 - 2
11-116660794-C-A c.*50G>T - 3-UTRSNV 4/4 - 1
11-116660797-A-C c.*47T>G - 3-UTRSNV 4/4 - 1
11-116660797-A-G c.*47T>C - 3-UTRSNV 4/4 - 1
11-116660813-G-A c.*31C>T - 3-UTRSNV 4/4 - 9
11-116660870-C-T c.1075G>A p.Gly359Ser Missense 4/4 - 1
11-116660909-C-T c.1036G>A p.Asp346Asn Missense 4/4 - 1
11-116660917-C-G c.1028G>C p.Arg343Pro Missense 4/4 - 1
11-116660918-G-A c.1027C>T p.Arg343Cys Missense 4/4 - 2
11-116660922-C-G c.1023G>C p.Gln341His Missense 4/4 - 1
11-116660956-TTGTT-T c.990_993del p.Asp332Valfs*5 Frameshift 4/4 - 1
11-116660983-T-A c.962A>T p.His321Leu Missense 4/4 - 1
11-116661001-G-A c.944C>T p.Ala315Val Missense 4/4 - 2
11-116661008-G-A c.937C>T p.Gln313* Nonsense 4/4 - 1
11-116661062-G-A c.883C>T p.Gln295* Nonsense 4/4 - 2
11-116661085-G-A c.860C>T p.Ala287Val Missense 4/4 - 1
11-116661101-G-A c.844C>T p.Arg282Cys Missense 4/4 - 2
11-116661101-G-T c.844C>A p.Arg282Ser Missense 4/4 - 3
11-116661134-C-A c.811G>T p.Gly271Cys Missense 4/4 - 2
11-116661181-T-C c.764A>G p.Glu255Gly Missense 4/4 - 1
11-116661187-A-G c.758T>C p.Leu253Pro Missense 4/4 - 2
11-116661199-T-C c.746A>G p.Asn249Ser Missense 4/4 - 1
11-116661212-G-A c.733C>T p.Arg245Cys Missense 4/4 - 1
11-116661221-G-C c.724C>G p.Leu242Val Missense 4/4 - 1
11-116661244-CTTCCGGGAGAGC-C c.694_705del p.Ser232_Leu235del InFrameDeletion 4/4 - 1
11-116661245-T-G c.700A>C p.Lys234Gln Missense 4/4 - 1
11-116661247-CG-GA c.697_698delinsTC p.Arg233Ser Missense 4/4 - 1
11-116661301-G-A c.644C>T p.Pro215Leu Missense 4/4 - 1
11-116661346-C-T c.599G>A p.Ser200Asn Missense 4/4 - 1
11-116661358-T-G c.587A>C p.Glu196Ala Missense 4/4 - 1
11-116661358-T-TG c.586_587insC p.Glu196Alafs*72 Frameshift 4/4 - 1
11-116661392-C-A c.553G>T p.Gly185Cys Missense 4/4 - 61
11-116661392-C-T c.553G>A p.Gly185Ser Missense 4/4 - 21
11-116661393-G-A c.552C>T p.Thr184Thr Synonymous 4/4 - 1
11-116661393-G-C c.552C>G p.Thr184Thr Synonymous 4/4 - 1
11-116661393-G-T c.552C>A p.Thr184Thr Synonymous 4/4 - 1
11-116661394-G-A c.551C>T p.Thr184Ile Missense 4/4 - 1
11-116661394-G-C c.551C>G p.Thr184Ser Missense 4/4 - 2
11-116661394-GG-G c.552del p.Gly185Alafs*15 Frameshift 4/4 - 1
11-116661427-A-G c.518T>C p.Leu173Pro Missense 4/4 - 1
11-116661461-A-C c.484T>G p.Leu162Val Missense 4/4 - 2
11-116661488-C-T c.457G>A p.Val153Met Missense 4/4 - 11
11-116661503-G-A c.442C>T p.Gln148* Nonsense 4/4 - 5
11-116661512-G-A c.433C>T p.Gln145* Nonsense 4/4 - 3
11-116661524-C-A c.421G>T p.Ala141Ser Missense 4/4 - 2
11-116661530-G-A c.415C>T p.Gln139* Nonsense 4/4 - 12
11-116661547-G-C c.398C>G p.Thr133Arg Missense 4/4 - 1
11-116661599-C-A c.346G>T p.Glu116* Nonsense 4/4 - 1
11-116661617-A-AA c.328dup p.Tyr110Leufs*158 Frameshift 4/4 - 1
11-116661656-G-A c.289C>T p.Gln97* Nonsense 4/4 - 7
11-116661656-G-T c.289C>A p.Gln97Lys Missense 4/4 - 1
11-116661662-G-A c.283C>T p.Gln95* Nonsense 4/4 - 1
11-116661757-TC-TT c.187delinsA p.Asp63Asn Missense 4/4 - 1
11-116661783-C-A c.162G>T p.Ala54Ala Synonymous 4/4 - 1
11-116661783-C-G c.162G>C p.Ala54Ala Synonymous 4/4 - 1
11-116661783-C-T c.162G>A p.Ala54Ala Synonymous 4/4 - 1
11-116661826-T-C c.162-43A>G - IntronicSNV - 3/3 26
11-116662303-C-T c.160G>A p.Ala54Thr Missense 3/4 - 4
11-116662305-G-A c.158C>T p.Pro53Leu Missense 3/4 - 2
11-116662331-G-A c.132C>T p.Ile44Ile Synonymous 3/4 - 2
11-116662331-G-C c.132C>G p.Ile44Met Missense 3/4 - 1
11-116662331-G-T c.132C>A p.Ile44Ile Synonymous 3/4 - 6
11-116662352-G-A c.111C>T p.Asp37Asp Synonymous 3/4 - 2
11-116662352-G-T c.111C>A p.Asp37Glu Missense 3/4 - 2
11-116662356-C-T c.107G>A p.Gly36Glu Missense 3/4 - 1
11-116662406-C-A c.57G>T p.Ser19Ser Synonymous 3/4 - 1
11-116662406-C-G c.57G>C p.Ser19Ser Synonymous 3/4 - 1
11-116662406-C-T c.57G>A p.Ser19Ser Synonymous 3/4 - 1
11-116662407-G-A c.56C>T p.Ser19Leu Missense 3/4 - 78
11-116662407-G-C c.56C>G p.Ser19Trp Missense 3/4 - 163
11-116662441-C-T c.50-28G>A - IntronicSNV - 2/3 1
11-116662449-C-G c.50-36G>C - IntronicSNV - 2/3 1
11-116662473-C-A c.49+55G>T - IntronicSNV - 2/3 1
11-116662529-TG-GG c.48delinsC p.Ser16Ser Missense 2/4 - 2
11-116662530-GA-CA c.47delinsG p.Ser16* Missense 2/4 - 1
11-116662533-AA-A c.46del p.Ser16Glnfs*41 Frameshift 2/4 - 1
11-116662543-AGAGCCCAGGTGAGCACGGCAGCCA-A c.16_39del p.Ala6_Ala13del InFrameDeletion 2/4 - 1
11-116662579-C-T c.-3G>A - 5-UTRSNV 2/4 - 68
11-116662785-G-A c.-8-201C>T - IntronicSNV - 1/3 2