Details for INHA:c.675T>G, p.Ser225Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
220439822219575100
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE INHA
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_002191.3
CDNA CHANGE c.675T>G
PROTEIN CHANGE p.Ser225Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00085660.00018520.00060730.00029770.00.00074310.001480.00048923.266e-05

ESP
AAEA
0.00045390.001279
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.342173Polymorphism
DBSNP ID rs139608664
1 combination linked to INHA:c.675T>G, p.Ser225Arg OLI572
1 disease linked to INHA:c.675T>G, p.Ser225Arg Disorder of sex development
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