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Details for SHROOM1:c.554G>T, p.Arg185Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132161279	132825587

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.554G>T

PROTEIN CHANGE

p.Arg185Leu

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
0.0002431	0.0	0.0	0.0	0.0	0.0	0.0003885	0.001656	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.884261	Polymorphism

DBSNP ID

1 combination linked to SHROOM1:c.554G>T, p.Arg185Leu

1 disease linked to SHROOM1:c.554G>T, p.Arg185Leu

Isolated anencephaly

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