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Details for SHROOM2:c.631G>A, p.Gly211Ser

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
9862579	9894539

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.631G>A

PROTEIN CHANGE

p.Gly211Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0013	0.001	0.0	0.0	0.0052	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003457	0.0004566	0.0007658	0.0	0.0	0.01564	0.004052	0.005526	0.0001049

ESP
AA	EA
0.0005215	0.003121

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.556686	Polymorphism

DBSNP ID

1 combination linked to SHROOM2:c.631G>A, p.Gly211Ser

1 disease linked to SHROOM2:c.631G>A, p.Gly211Ser

Atypical hemolytic uremic syndrome

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