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Details for SHROOM2:c.4661G>A, p.Arg1554His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
9914787	9946747

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4661G>A

PROTEIN CHANGE

p.Arg1554His

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
1.809e-05	0.0	3.848e-05	0.0	0.0	0.0	2.767e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.060671	Polymorphism

DBSNP ID

1 combination linked to SHROOM2:c.4661G>A, p.Arg1554His

1 disease linked to SHROOM2:c.4661G>A, p.Arg1554His

Isolated anencephaly

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