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 DLC1:c.3895G>A, p.Glu1299Lys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
12947940	13090431

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3895G>A

PROTEIN CHANGE

p.Glu1299Lys

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
7.961e-06	0.0	0.0	0.0	5.438e-05	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.836705	Polymorphism

DBSNP ID

1 combination linked to DLC1:c.3895G>A, p.Glu1299Lys

1 disease linked to DLC1:c.3895G>A, p.Glu1299Lys

Isolated anencephaly

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