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Details for SHROOM2:c.4274C>T, p.Ser1425Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
9907369	9939329

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4274C>T

PROTEIN CHANGE

p.Ser1425Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0019	0.001	0.0	0.0	0.0052	0.0028

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005525	0.001264	0.0008647	0.009778	7.439e-05	0.01127	0.007904	0.005522	0.002554

ESP
AA	EA
0.001825	0.008176

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.231252	Polymorphism

DBSNP ID

1 combination linked to SHROOM2:c.4274C>T, p.Ser1425Leu

1 disease linked to SHROOM2:c.4274C>T, p.Ser1425Leu

Isolated anencephaly

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