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Details for DLC1:c.3551A>T, p.Gln1184Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
12950310	13092801

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3551A>T

PROTEIN CHANGE

p.Gln1184Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0	0.0144	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001843	0.0003088	0.006115	0.0	0.0	4.64e-05	0.002039	0.002295	0.0

ESP
AA	EA
0.000227	0.001628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.564123	Polymorphism

DBSNP ID

1 combination linked to DLC1:c.3551A>T, p.Gln1184Leu

1 disease linked to DLC1:c.3551A>T, p.Gln1184Leu

Isolated anencephaly

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