| Geno
|
Mag
|
Summary
|
| (-;-)
|
6
|
deafness associated
|
| (-;C)
|
3
|
carrier of deafness-associated variant
|
| (C;C)
|
0
|
common in clinvar
|
Also known as 235delC, this SNP in the GJB2 gene is one of the most common nonsyndromic recessive deafness-associated variants in eastern Asian populations.
| ClinVar
|
| Risk
|
Rs80338943(-;-) |
| Alt
|
Rs80338943(-;-) |
| Reference
|
Rs80338943(C;C) |
| Significance |
Pathogenic |
| Disease |
Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided |
| Variation | info |
|---|
| Gene |
GJB2 |
| CLNDBN |
Deafness, autosomal recessive 1A Deafness, digenic, GJB2/GJB3 Hearing impairment Nonsyndromic hearing loss and deafness not provided Deafness, autosomal dominant 3a |
| Reversed |
1 |
| HGVS |
NC_000013.10:g.20763486delG |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000018538.32, RCV000018539.24, RCV000146011.1, RCV000211768.1, RCV000255303.1, RCV000410166.1, RCV000490501.1, |
[PMID 12384] [Nursing and drugs: criticism of total dependence on analgesics for the treatment of pain. Reevaluation of nursing concession to the patient's request, resulting in the development of narcotic dependence].
[PMID 10607953] Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
[PMID 10633133
] Prevalent connexin 26 gene (GJB2) mutations in Japanese.
[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.
[PMID 17505205] The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.
[PMID 19050930] Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
] Prevalent connexin 26 gene (GJB2) mutations in Japanese.
