| Geno
|
Mag
|
Summary
|
| (C;C)
|
6
|
Deafness and keratitis; possible dominant or recessive
|
| (C;G)
|
6
|
Deafness and keratitis; possible dominant or recessive
|
| (G;G)
|
0
|
common in clinvar
|
This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.
| ClinVar
|
| Risk
|
Rs104894408(C;C) rs104894408(T;T) |
| Alt
|
Rs104894408(C;C) rs104894408(T;T) |
| Reference
|
Rs104894408(G;G) |
| Significance |
Pathogenic |
| Disease |
Nonsyndromic hearing loss and deafness not provided Hearing impairment not specified Deafness Keratitis-ichthyosis-deafness syndrome |
| Variation | info |
|---|
| Gene |
GJB2 |
| CLNDBN |
Nonsyndromic hearing loss and deafness not provided Hearing impairment not specified Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a Keratitis-ichthyosis-deafness syndrome, autosomal dominant |
| Reversed |
1 |
| HGVS |
NC_000013.10:g.20763687C>A; NC_000013.10:g.20763687C>G |
| CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000037839.3, RCV000080371.6, RCV000146017.1, RCV000259042.1, RCV000410006.1, RCV000411497.1, RCV000018548.30, |
[PMID 15365987
] GJB2: the spectrum of deafness-causing allele variants and their phenotype.
[PMID 17041943] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
[PMID 17666888] A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
] GJB2: the spectrum of deafness-causing allele variants and their phenotype.
