Details for SPRY4:c.46G>A, p.Val16Ile

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
141694628142315063
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SPRY4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_030964.3
CDNA CHANGE c.46G>A
PROTEIN CHANGE p.Val16Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.991717Disease causing
DBSNP ID rs587776981
1 combination linked to SPRY4:c.46G>A, p.Val16Ile OLI815
1 disease linked to SPRY4:c.46G>A, p.Val16Ile Kallmann syndrome
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