Details for RNF216:c.1471C>A, p.Gln491Lys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
57649885725357
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RNF216
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_207111
CDNA CHANGE c.1471C>A
PROTEIN CHANGE p.Gln491Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.924954Polymorphism
DBSNP ID NA
1 combination linked to RNF216:c.1471C>A, p.Gln491Lys OLI1543
1 disease linked to RNF216:c.1471C>A, p.Gln491Lys 46,XY disorder of sex development
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