Details for GDF9:c.1360C>T, p.Arg454Cys

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
132197286132861594
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GDF9
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005260.5
CDNA CHANGE c.1360C>T
PROTEIN CHANGE p.Arg454Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00080.01010.00.0040.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0029350.00086120.0027170.00079370.00.0030490.0040960.003420.002254

ESP
AAEA
0.00090790.002674
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.118887Polymorphism
DBSNP ID rs61754582
1 combination linked to GDF9:c.1360C>T, p.Arg454Cys OLI090
1 disease linked to GDF9:c.1360C>T, p.Arg454Cys Primary ovarian failure

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