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Details for DLC1:c.4007T>G, p.Val1336Gly

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
12947828	13090319

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.4007T>G

PROTEIN CHANGE

p.Val1336Gly

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
7.959e-06	0.0	0.0	0.0	0.0	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.128347	Polymorphism

DBSNP ID

1 combination linked to DLC1:c.4007T>G, p.Val1336Gly

1 disease linked to DLC1:c.4007T>G, p.Val1336Gly

Isolated anencephaly

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