Details for ZNF205:c.925C>T, p.Arg309Trp

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
31695863119585
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ZNF205
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001042428
CDNA CHANGE c.925C>T
PROTEIN CHANGE p.Arg309Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.293e-050.00.00011680.00010445.526e-050.01.831e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.938368Polymorphism
DBSNP ID rs776653418
1 combination linked to ZNF205:c.925C>T, p.Arg309Trp OLI1142
1 disease linked to ZNF205:c.925C>T, p.Arg309Trp Mayer-Rokitansky-Küster-Hauser syndrome
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