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Details for SHROOM3:c.4519G>A, p.Glu1507Lys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
77676155	76755002

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4519G>A

PROTEIN CHANGE

p.Glu1507Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001524	0.000123	0.0002607	0.0	5.437e-05	0.003148	0.002536	0.001307	0.000229

ESP
AA	EA
0.0	0.001744

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.081828	Polymorphism

DBSNP ID

1 combination linked to SHROOM3:c.4519G>A, p.Glu1507Lys

1 disease linked to SHROOM3:c.4519G>A, p.Glu1507Lys

Isolated anencephaly

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