Details for SRCAP:c.7142G>A, p.Arg2381His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
3073718230725861
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SRCAP
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.7142G>A
PROTEIN CHANGE p.Arg2381His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.17943Polymorphism
DBSNP ID NA
1 combination linked to SRCAP:c.7142G>A, p.Arg2381His OLI1748
1 disease linked to SRCAP:c.7142G>A, p.Arg2381His 46,XY disorder of sex development
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