Details for ALDH1L1:c.1307T>C, p.Ile436Thr

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
125855674126136831
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE ALDH1L1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001270364.2
CDNA CHANGE c.1307T>C
PROTEIN CHANGE p.Ile436Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.068e-050.02.935e-050.00.00016470.02.695e-050.00033123.386e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.358782Polymorphism
DBSNP ID rs183204130
1 combination linked to ALDH1L1:c.1307T>C, p.Ile436Thr OLI696
1 disease linked to ALDH1L1:c.1307T>C, p.Ile436Thr Isolated anencephaly
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