LP208440-0
GJB2 gene.c.35delG
Active
Description
The c.35delG mutation [NCBI ClinVar ID: 17004] in the GJB2 gene is associated with autosomal recessive deafness Type 1A and digenic deafness [OMIM: 220290]. Approximately 50% of cases of autosomal recessive non-syndromic deafness are cause by mutations in the GJB2 gene, with 35delG being the most common. PMID: 19173109 Patients who are heterozygous for mutations in the GJB2 genes have been found to also have a mutation in another gene locus, such as GJB6 or GJB3. PMID: 15994881 PMID: 19050930 Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- GJB2 gene.c.35delG
- Part Display Name
- GJB2 gene c.35delG
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-18
- Construct for LOINC Short Name
- GJB2 c.35delG
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GJB2 基因.c.35delG Synonyms: 间隙连接蛋白β2; |
| es-ES | Spanish (Spain) | Gen GJB2 c.35delG |
| it-IT | Italian (Italy) | GJB2 gene.c.35delG |
| nl-NL | Dutch (Netherlands) | GJB2-gen.c.35delG Synonyms: GJB2 gen.c.35delG |
| fr-FR | French (France) | GJB2 gène.c.35delG |
| pl-PL | Polish (Poland) | GJB2 gen.c.35delG Synonyms: Gen GJB2 c.35delG |
| el-GR | Greek (Greece) | Γονίδιο GJB2 c.35delG Synonyms: Γονίδιο GJB2 c.35delG |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://