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Details for AHCY:c.769T>C, p.Tyr257His

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
32878442	34290636

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.769T>C

PROTEIN CHANGE

p.Tyr257His

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
5.17e-05	6.152e-05	0.0	0.0	0.0	0.0	0.0001055	0.0	0.0

ESP
AA	EA
0.000227	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.978401	Disease causing

DBSNP ID

1 combination linked to AHCY:c.769T>C, p.Tyr257His

1 disease linked to AHCY:c.769T>C, p.Tyr257His

Craniorachischisis

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