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Details for SHROOM1:c.49A>G, p.Thr17Ala

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132161784	132826092

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.49A>G

PROTEIN CHANGE

p.Thr17Ala

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
0.0004717	0.0002158	0.0	0.0	0.0	0.0002201	0.0007944	0.0	0.0

ESP
AA	EA
0.0	0.0006289

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.974085	Polymorphism

DBSNP ID

1 combination linked to SHROOM1:c.49A>G, p.Thr17Ala

1 disease linked to SHROOM1:c.49A>G, p.Thr17Ala

Isolated anencephaly

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