Details for COL6A3:c.8865dupC, p.Ala2956ArgfsTer13

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
238244878237336235
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL6A3
REFERENCE ALLELE G
ALTERNATE ALLELE GG
TRANSCRIPT NM_004369.4
CDNA CHANGE c.8865dupC
PROTEIN CHANGE p.Ala2956ArgfsTer13
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.208982Disease causing
DBSNP ID NA
1 combination linked to COL6A3:c.8865dupC, p.Ala2956ArgfsTer13 OLI1678
1 disease linked to COL6A3:c.8865dupC, p.Ala2956ArgfsTer13 Non-Syndromic genetic keratoconus
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