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Details for GJB2:c.235delC, p.Leu79CysfsTer3

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763485	20189346

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AG

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.235delC

PROTEIN CHANGE

p.Leu79CysfsTer3

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0	0.0	0.0079	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004694	0.0	0.0	0.0	0.006198	0.0	1.759e-05	0.0001631	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.860717	Disease causing

DBSNP ID

3 combinations linked to GJB2:c.235delC, p.Leu79CysfsTer3

OLI192; OLI193; OLI251

1 disease linked to GJB2:c.235delC, p.Leu79CysfsTer3

Non-syndromic genetic deafness

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