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Details for PCYT1A:c.556A>G, p.Lys186Glu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
195969442	196242571

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.556A>G

PROTEIN CHANGE

p.Lys186Glu

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
1.194e-05	0.0	0.0	0.0	0.0	0.0	2.64e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.217342	Polymorphism

DBSNP ID

1 combination linked to PCYT1A:c.556A>G, p.Lys186Glu

1 disease linked to PCYT1A:c.556A>G, p.Lys186Glu

Isolated anencephaly

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