Details for ALDH1A2:c.590T>C, p.Ile197Thr

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
5828523757993039
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALDH1A2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_003888.3
CDNA CHANGE c.590T>C
PROTEIN CHANGE p.Ile197Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.833188Disease causing
DBSNP ID rs1389877799
1 combination linked to ALDH1A2:c.590T>C, p.Ile197Thr OLI726
1 disease linked to ALDH1A2:c.590T>C, p.Ile197Thr Isolated anencephaly
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