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Details for SETD2:c.6686T>G, p.Val2229Gly

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
47098588	47057098

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.6686T>G

PROTEIN CHANGE

p.Val2229Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.005	0.0	0.0	0.001	0.0	0.0245

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002136	0.0	5.784e-05	0.0	0.0001089	0.0	1.759e-05	0.0009785	0.01715

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.767552	Polymorphism

DBSNP ID

1 combination linked to SETD2:c.6686T>G, p.Val2229Gly

1 disease linked to SETD2:c.6686T>G, p.Val2229Gly

Isolated anencephaly

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