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Details for SETD2:c.5368C>T, p.Arg1790Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
47127714	47086224

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5368C>T

PROTEIN CHANGE

p.Arg1790Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.591e-05	0.0	2.894e-05	0.0	0.0	0.0	2.639e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.953463	Polymorphism

DBSNP ID

1 combination linked to SETD2:c.5368C>T, p.Arg1790Trp

1 disease linked to SETD2:c.5368C>T, p.Arg1790Trp

Isolated anencephaly

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