Details for SEMA3A:c.2062A>G, p.Thr688Ala

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
8359094183961625
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SEMA3A
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_006080.2
CDNA CHANGE c.2062A>G
PROTEIN CHANGE p.Thr688Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00018310.00.00.00.00.00.00015840.00.0009147

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.572195Polymorphism
DBSNP ID rs318240751
1 combination linked to SEMA3A:c.2062A>G, p.Thr688Ala OLI289
1 disease linked to SEMA3A:c.2062A>G, p.Thr688Ala Kallmann syndrome
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