Details for SEMA7A:c.406C>T, p.Arg136Trp

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7471027774417936
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SEMA7A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003612.5
CDNA CHANGE c.406C>T
PROTEIN CHANGE p.Arg136Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.397e-050.00.00011570.00.00.05.306e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.633917Polymorphism
DBSNP ID NA
1 combination linked to SEMA7A:c.406C>T, p.Arg136Trp OLI1302
1 disease linked to SEMA7A:c.406C>T, p.Arg136Trp Kallmann syndrome

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