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Details for GJB2:c.35delG, p.Gly12ValfsTer2

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763685	20189546

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AC

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.35delG

PROTEIN CHANGE

p.Gly12ValfsTer2

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0	0.0029	0.0	0.0089	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005967	0.001169	0.0048	0.003177	0.0	0.008084	0.009197	0.007183	0.0008167

ESP
AA	EA
0.0009381	0.01078

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.933273	Disease causing

DBSNP ID

1 combination linked to GJB2:c.35delG, p.Gly12ValfsTer2

1 disease linked to GJB2:c.35delG, p.Gly12ValfsTer2

Non-syndromic genetic deafness

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