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Details for GJB3:c.580G>A, p.Ala194Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
35250943	34785342

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.580G>A

PROTEIN CHANGE

p.Ala194Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008393	0.0	2.891e-05	0.001091	0.00696	0.001296	0.0002902	0.0003258	0.0002613

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.953275	Polymorphism

DBSNP ID

3 combinations linked to GJB3:c.580G>A, p.Ala194Thr

OLI193; OLI194; OLI252

1 disease linked to GJB3:c.580G>A, p.Ala194Thr

Non-syndromic genetic deafness

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