|| deafness associated
|| carrier of deafness-associated variant
|| common in clinvar
Known as 167delT, this is the most common nonsyndromic recessive deafness-associated SNP in Ashkenazi Jewish populations.
rs80338942 is designated as I4000435 by 23andMe.
Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided Mutilating keratoderma Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma palmoplantar deafness Knuckle pads
| Variation || info |
Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness not provided Mutilating keratoderma Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive Keratitis-Ichthyosis-Deafness Syndrome Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3a Keratitis-ichthyosis-deafness syndrome, autosomal dominant Keratoderma palmoplantar deafness Knuckle pads, deafness AND leukonychia syndrome
OMIM Allelic Variant
RCV000018534.32, RCV000146010.1, RCV000211757.1, RCV000255988.1, RCV000291910.1, RCV000307189.1, RCV000346888.1, RCV000392353.1, RCV000392361.1, RCV000409300.1, RCV000477920.1,
[PMID 9819448] Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
[PMID 10903123] Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
[PMID 110744] Hydroxyurea or placebo combined with radiation to treat stages IIIB and IV cervical cancer confined to the pelvis.
[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.