Details for SEMA3F:c.1480A>G, p.Ile494Val

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5022289950185466
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SEMA3F
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_004186
CDNA CHANGE c.1480A>G
PROTEIN CHANGE p.Ile494Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.988e-060.02.896e-050.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.5547Polymorphism
DBSNP ID NA
1 combination linked to SEMA3F:c.1480A>G, p.Ile494Val OLI1557
1 disease linked to SEMA3F:c.1480A>G, p.Ile494Val Syndrome with 46,XY disorder of sex development

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