Details for COL6A1:c.1712A>C,

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4741910445999190
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL6A1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1712A>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011240.00013863.063e-050.00.00.00.0002020.00017493.543e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.771514Polymorphism
DBSNP ID NA
1 combination linked to COL6A1:c.1712A>C, OLI1327
1 disease linked to COL6A1:c.1712A>C, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
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