Details for SEMA3A:c.1303G>A, p.Val435Ile

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
8363471284005396
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SEMA3A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_006080.2
CDNA CHANGE c.1303G>A
PROTEIN CHANGE p.Val435Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00820.00080.01870.00.02290.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.013640.0030150.0072580.011410.00010870.010310.02150.013540.008526

ESP
AAEA
0.0036310.01395
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.946036Polymorphism
DBSNP ID rs147436181
3 combinations linked to SEMA3A:c.1303G>A, p.Val435Ile OLI286; OLI287; OLI288
1 disease linked to SEMA3A:c.1303G>A, p.Val435Ile Kallmann syndrome
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