|(-;G)||3||carrier of most common deafness-associated variant in Caucasians|
|(G;G)||0||common in clinvar|
rs80338939, also known as 35delG or in some cases 30delG, is a SNP in the GJB2 gene. This variant is the most common one associated (when present in two copies) with autosomal recessive nonsyndromic hearing loss, i.e. deafness.
Note: In 23andMe data, this SNP is referred to as i4000434.
|Disease||Deafness not provided Hearing impairment Nonsyndromic hearing loss and deafness Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing impairment Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma palmoplantar deafness Knuckle pads Mutilating keratoderma|
|CLNDBN||Deafness, autosomal recessive 1A Deafness, digenic, GJB2/GJB6 not provided Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing impairment Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome, autosomal dominant Keratoderma palmoplantar deafness Knuckle pads, deafness AND leukonychia syndrome Mutilating keratoderma|
|CLNSRC||HGMD OMIM Allelic Variant|
|CLNACC||RCV000018527.38, RCV000018528.30, RCV000080373.6, RCV000146019.1, RCV000211775.1, RCV000411531.1, RCV000414886.1, RCV000415175.1, RCV000415181.1, RCV000415367.1, RCV000477882.1,|
[PMID 125225] Trisomy 21 and trisomy 18 in half-siblings.
[PMID 9328482] Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
[PMID 10633133] Prevalent connexin 26 gene (GJB2) mutations in Japanese.
[PMID 11313751] On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe.
[PMID 12176036] Hearing loss: frequency and functional studies of the most common connexin26 alleles.
[PMID 16088916] High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
[PMID 9819448] Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
[PMID 10508996] High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.
[PMID 10982182] The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
[PMID 11386851] Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.
[PMID 11668644] A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.