Details for SEMA7A:c.1000G>A, p.Val334Ile

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7470397974411638
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SEMA7A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003612.4
CDNA CHANGE c.1000G>A
PROTEIN CHANGE p.Val334Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.128611Polymorphism
DBSNP ID NA
1 combination linked to SEMA7A:c.1000G>A, p.Val334Ile OLI891
1 disease linked to SEMA7A:c.1000G>A, p.Val334Ile Normosmic congenital hypogonadotropic hypogonadism
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