CCDC63 coiled-coil domain containing 63

Canonical transcript: NM_152591

76 unique variant annotations were identified in 67 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
12-111284831-C-G c.-175C>G - 5_prime_UTR_variant 1/12 - 1
12-111284872-G-A c.-134G>A - 5_prime_UTR_variant 1/12 - 2
12-111284872-G-C c.-134G>C - 5_prime_UTR_variant 1/12 - 2
12-111291227-AAA-TGG c.28_30delinsTGG p.Lys10Trp Missense 3/12 - 1
12-111291255-C-A c.56C>A p.Ser19* Nonsense 3/12 - 1
12-111291255-C-G c.56C>G p.Ser19Trp Missense 3/12 - 1
12-111291255-C-T c.56C>T p.Ser19Leu Missense 3/12 - 1
12-111291339-C-T c.140C>T p.Ser47Phe Missense 3/12 - 1
12-111291694-C-T c.179+316C>T - IntronicSNV - 3/11 1
12-111294330-G-C c.180-2060G>C - IntronicSNV - 3/11 1
12-111295085-C-A c.180-1305C>A - IntronicSNV - 3/11 1
12-111295085-C-G c.180-1305C>G - IntronicSNV - 3/11 1
12-111295085-C-T c.180-1305C>T - IntronicSNV - 3/11 1
12-111296320-A-G c.180-70A>G - IntronicSNV - 3/11 1
12-111296822-G-A c.369+243G>A - IntronicSNV - 4/11 1
12-111296822-G-T c.369+243G>T - IntronicSNV - 4/11 1
12-111308605-T-A c.370-3041T>A - IntronicSNV - 4/11 1
12-111308801-T-C c.370-2845T>C - IntronicSNV - 4/11 1
12-111308801-T-G c.370-2845T>G - IntronicSNV - 4/11 1
12-111311718-C-T c.442C>T p.Arg148Trp Missense 5/12 - 1
12-111311719-G-A c.443G>A p.Arg148Gln Missense 5/12 - 1
12-111311929-T-C c.489+164T>C - IntronicSNV - 5/11 6
12-111314289-T-C c.489+2524T>C - IntronicSNV - 5/11 4
12-111317756-G-A c.536G>A p.Arg179Gln Missense 6/12 - 2
12-111317810-A-G c.590A>G p.Gln197Arg Missense 6/12 - 1
12-111319097-G-A c.850G>A p.Glu284Lys Missense 7/12 - 1
12-111319724-A-T c.853+624A>T - IntronicSNV - 7/11 1
12-111321512-T-C c.854-322T>C - IntronicSNV - 7/11 1
12-111321724-G-A c.854-110G>A - IntronicSNV - 7/11 2
12-111321905-C-T c.925C>T p.Arg309Trp Missense 8/12 - 1
12-111323939-G-A c.1074+1885G>A - IntronicSNV - 8/11 1
12-111323939-G-C c.1074+1885G>C - IntronicSNV - 8/11 1
12-111323939-G-T c.1074+1885G>T - IntronicSNV - 8/11 1
12-111324923-A-T c.1074+2869A>T - IntronicSNV - 8/11 1
12-111325265-T-C c.1074+3211T>C - IntronicSNV - 8/11 3
12-111325437-T-A c.1074+3383T>A - IntronicSNV - 8/11 2
12-111326655-T-C c.1075-4225T>C - IntronicSNV - 8/11 1
12-111326666-G-A c.1075-4214G>A - IntronicSNV - 8/11 1
12-111326666-G-C c.1075-4214G>C - IntronicSNV - 8/11 1
12-111326666-G-T c.1075-4214G>T - IntronicSNV - 8/11 1
12-111328450-C-T c.1075-2430C>T - IntronicSNV - 8/11 1
12-111329227-G-A c.1075-1653G>A - IntronicSNV - 8/11 2
12-111330209-CC-CCCC c.1075-671_1075-670dup - IntronicInsertion - 8/11 1
12-111330210-C-CC c.1075-670dup - IntronicInsertion - 8/11 1
12-111330883-G-A c.1078G>A p.Glu360Lys Missense 9/12 - 1
12-111331016-G-A c.1149+62G>A - IntronicSNV - 9/11 7
12-111331156-T-A c.1149+202T>A - IntronicSNV - 9/11 2
12-111331165-G-A c.1149+211G>A - IntronicSNV - 9/11 2
12-111331685-C-T c.1149+731C>T - IntronicSNV - 9/11 2
12-111333224-C-T c.1149+2270C>T - IntronicSNV - 9/11 1
12-111333622-T-C c.1149+2668T>C - IntronicSNV - 9/11 18
12-111334117-T-C c.1150-2620T>C - IntronicSNV - 9/11 5
12-111334318-A-G c.1150-2419A>G - IntronicSNV - 9/11 2
12-111334375-C-T c.1150-2362C>T - IntronicSNV - 9/11 3
12-111335360-T-C c.1150-1377T>C - IntronicSNV - 9/11 1
12-111335756-A-G c.1150-981A>G - IntronicSNV - 9/11 2
12-111336560-A-T c.1150-177A>T - IntronicSNV - 9/11 3
12-111337891-A-G c.1342+962A>G - IntronicSNV - 10/11 1
12-111338794-C-T c.1342+1865C>T - IntronicSNV - 10/11 16
12-111340243-T-C c.1343-2149T>C - IntronicSNV - 10/11 15
12-111340788-A-G c.1343-1604A>G - IntronicSNV - 10/11 1
12-111341026-A-G c.1343-1366A>G - IntronicSNV - 10/11 1
12-111341026-A-T c.1343-1366A>T - IntronicSNV - 10/11 1
12-111341702-T-G c.1343-690T>G - IntronicSNV - 10/11 1
12-111341920-G-T c.1343-472G>T - IntronicSNV - 10/11 1
12-111341921-A-T c.1343-471A>T - IntronicSNV - 10/11 1
12-111341925-T-C c.1343-467T>C - IntronicSNV - 10/11 1
12-111342017-A-G c.1343-375A>G - IntronicSNV - 10/11 2
12-111342595-G-A c.1546G>A p.Val516Met Missense 11/12 - 1
12-111342722-T-C c.1546+127T>C - IntronicSNV - 11/11 2
12-111343000-A-T c.1546+405A>T - IntronicSNV - 11/11 1
12-111343443-A-C c.1546+848A>C - IntronicSNV - 11/11 2
12-111343742-A-T c.1546+1147A>T - IntronicSNV - 11/11 1
12-111344572-C-T c.1547-563C>T - IntronicSNV - 11/11 2
12-111344621-G-T c.1547-514G>T - IntronicSNV - 11/11 1
12-111345219-G-T c.1631G>T p.Arg544Leu Missense 12/12 - 1