Details for FGFR2:c.1132A>G, p.Ile378Val

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
123274786121515272
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_000141
CDNA CHANGE c.1132A>G
PROTEIN CHANGE p.Ile378Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.955533Disease causing
DBSNP ID NA
1 combination linked to FGFR2:c.1132A>G, p.Ile378Val OLI1514
1 disease linked to FGFR2:c.1132A>G, p.Ile378Val 46,XY disorder of sex development
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