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Details for GRHL1:c.25C>T, p.Arg9Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
10095048	9954919

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.25C>T

PROTEIN CHANGE

p.Arg9Trp

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
4.015e-06	0.0	0.0	0.0	5.564e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.707695	Polymorphism

DBSNP ID

1 combination linked to GRHL1:c.25C>T, p.Arg9Trp

1 disease linked to GRHL1:c.25C>T, p.Arg9Trp

Isolated anencephaly

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