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Details for SHROOM1:c.1439C>T, p.Pro480Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132159914	132824222

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1439C>T

PROTEIN CHANGE

p.Pro480Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0043	0.0	0.0	0.0092

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001552	0.0	0.0008678	0.000199	5.437e-05	0.0	0.0004752	0.0006521	0.009768

ESP
AA	EA
0.0	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.948156	Polymorphism

DBSNP ID

1 combination linked to SHROOM1:c.1439C>T, p.Pro480Leu

1 disease linked to SHROOM1:c.1439C>T, p.Pro480Leu

Isolated anencephaly

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