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Details for AHCY:c.31G>A, p.Asp11Asn

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
32883389	34295583

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.31G>A

PROTEIN CHANGE

p.Asp11Asn

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
1.21e-05	0.0	0.0	0.0	0.0	0.0	2.699e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.9697	None

DBSNP ID

1 combination linked to AHCY:c.31G>A, p.Asp11Asn

1 disease linked to AHCY:c.31G>A, p.Asp11Asn

Isolated anencephaly

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