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Details for BRD2:c.1786G>A, p.Gly596Ser

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
32946110	32978333

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1786G>A

PROTEIN CHANGE

p.Gly596Ser

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
8.128e-06	0.0	0.0	0.0	0.0	0.0	1.813e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.762293	Polymorphism

DBSNP ID

1 combination linked to BRD2:c.1786G>A, p.Gly596Ser

1 disease linked to BRD2:c.1786G>A, p.Gly596Ser

Isolated anencephaly

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