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Details for ALDH1L1:c.2657A>G, p.Lys886Arg

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
125824595	126105752

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2657A>G

PROTEIN CHANGE

p.Lys886Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004136	0.0002461	0.0001156	0.0	0.0	0.0	0.0008	0.0006515	3.266e-05

ESP
AA	EA
0.000227	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.921164	Polymorphism

DBSNP ID

1 combination linked to ALDH1L1:c.2657A>G, p.Lys886Arg

1 disease linked to ALDH1L1:c.2657A>G, p.Lys886Arg

Isolated anencephaly

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