Details for EFNA5:c.668C>T, p.Ala223Val

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
106716975107381274
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE EFNA5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001962.2
CDNA CHANGE c.668C>T
PROTEIN CHANGE p.Ala223Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00045780.00024615.783e-050.00.0058750.08.808e-060.00.0

ESP
AAEA
0.00022710.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.950628Polymorphism
DBSNP ID rs201008479
1 combination linked to EFNA5:c.668C>T, p.Ala223Val OLI870
1 disease linked to EFNA5:c.668C>T, p.Ala223Val Kallmann syndrome
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