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Details for DLC1:c.1697C>A, p.Ser566Tyr

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
12958149	13100640

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1697C>A

PROTEIN CHANGE

p.Ser566Tyr

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
0.0003025	0.0	2.892e-05	0.0	0.0	0.0	0.0006515	0.0	3.267e-05

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.233217	Polymorphism

DBSNP ID

1 combination linked to DLC1:c.1697C>A, p.Ser566Tyr

1 disease linked to DLC1:c.1697C>A, p.Ser566Tyr

Isolated anencephaly

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