Details for SEMA3A:c.9G>C, p.Trp3Cys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
8382389484194578
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SEMA3A
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_006080
CDNA CHANGE c.9G>C
PROTEIN CHANGE p.Trp3Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00380.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00035830.0048660.00017370.00.00.02.641e-050.00032640.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.449269Polymorphism
DBSNP ID NA
1 combination linked to SEMA3A:c.9G>C, p.Trp3Cys OLI1523
1 disease linked to SEMA3A:c.9G>C, p.Trp3Cys 46,XY disorder of sex development
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