| Geno
|
Mag
|
Summary
|
| (A;G)
|
3
|
Carrier of a recessive deafness mutation
|
| (C;G)
|
3
|
Carrier of a recessive deafness mutation
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
3
|
Carrier of a recessive deafness mutation
|
| ClinVar
|
| Risk
|
rs104894409(A;A) rs104894409(C;C) rs104894409(T;T) |
| Alt
|
rs104894409(A;A) rs104894409(C;C) rs104894409(T;T) |
| Reference
|
Rs104894409(G;G) |
| Significance |
Other |
| Disease |
not provided Deafness Hearing impairment Nonsyndromic hearing loss and deafness |
| Variation | info |
|---|
| Gene |
GJB2 |
| CLNDBN |
not provided Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a |
| Reversed |
1 |
| HGVS |
NC_000013.10:g.20763471C>A; NC_000013.10:g.20763471C>G; NC_000013.10:g.20763471C>T |
| CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000153314.2, RCV000169112.2, RCV000018560.34, RCV000146012.1, RCV000211770.1, RCV000018564.27, RCV000211769.1, RCV000254760.1, RCV000410225.1, |
[PMID 9529365
] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
[PMID 16222667] Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
[PMID 11556849] Connexin 26 studies in patients with sensorineural hearing loss.
[PMID 14985372] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
[PMID 15592461] Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.
] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
