This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SHROOM1:c.1060G>A, p.Val354Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
132160488	132824796

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1060G>A

PROTEIN CHANGE

p.Val354Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0	0.0	0.0	0.0	0.0184

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002443	0.0	5.784e-05	0.0	0.0	0.0	0.0	0.0008157	0.01983

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.495834	Polymorphism

DBSNP ID

1 combination linked to SHROOM1:c.1060G>A, p.Val354Met

1 disease linked to SHROOM1:c.1060G>A, p.Val354Met

Isolated anencephaly

Found any issues with the data on this page? Report this entry.