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Details for GJB3:c.497A>G, p.Asn166Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
35250860	34785259

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.497A>G

PROTEIN CHANGE

p.Asn166Ser

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
7.957e-06	6.155e-05	0.0	0.0	5.437e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.152144	Disease causing

DBSNP ID

1 combination linked to GJB3:c.497A>G, p.Asn166Ser

1 disease linked to GJB3:c.497A>G, p.Asn166Ser

Non-syndromic genetic deafness

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