Variants - CCHMC Molecular Genetics Laboratory Mutation Database - Leiden Open Variation Database

CCHMC Molecular Genetics Laboratory Mutation Database

gap junction protein, beta 2, 26kDa (GJB2)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: Ammar Husami

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This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000808)
Race	-
Reference	Korea (South) (Republic):Seongnam
Ethnic origin	-
Submitter	Byung Yoon Choi

1 entry in GJB2

Path.

Allele

DNA change

Protein

dbSNP ID

+?/?

Unknown

p.Val193Glu

-

For research use. Husami et al. 2006-2010