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Details for SHROOM2:c.345C>A, p.His115Gln

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
9859044	9891004

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.345C>A

PROTEIN CHANGE

p.His115Gln

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
6.079e-06	0.0	0.0	0.0	0.0	0.0	1.382e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.725615	None

DBSNP ID

1 combination linked to SHROOM2:c.345C>A, p.His115Gln

1 disease linked to SHROOM2:c.345C>A, p.His115Gln

Isolated anencephaly

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