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Details for GRHL2:c.641G>A, p.Ser214Asn

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
102571003	101558775

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.641G>A

PROTEIN CHANGE

p.Ser214Asn

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
6.782e-05	0.0	0.0	0.0	0.0	9.247e-05	0.0001325	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.840259	Polymorphism

DBSNP ID

1 combination linked to GRHL2:c.641G>A, p.Ser214Asn

1 disease linked to GRHL2:c.641G>A, p.Ser214Asn

Isolated anencephaly

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