rs80338939
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6 | deafness associated |
| (-;G) | 3 | carrier of most common deafness-associated variant in Caucasians |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189547 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338939 |
| dbSNP (classic) | rs80338939 |
| ClinGen | rs80338939 |
| ebi | rs80338939 |
| HLI | rs80338939 |
| Exac | rs80338939 |
| Gnomad | rs80338939 |
| Varsome | rs80338939 |
| LitVar | rs80338939 |
| Map | rs80338939 |
| PheGenI | rs80338939 |
| Biobank | rs80338939 |
| 1000 genomes | rs80338939 |
| hgdp | rs80338939 |
| ensembl | rs80338939 |
| geneview | rs80338939 |
| scholar | rs80338939 |
| rs80338939 | |
| pharmgkb | rs80338939 |
| gwascentral | rs80338939 |
| openSNP | rs80338939 |
| 23andMe | rs80338939 |
| SNPshot | rs80338939 |
| SNPdbe | rs80338939 |
| MSV3d | rs80338939 |
| GWAS Ctlg | rs80338939 |
| Max Magnitude | 6 |
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.
| ClinVar | |
|---|---|
| Risk | Rs80338939(-;-) |
| Alt | Rs80338939(-;-) |
| Reference | Rs80338939(G;G) |
| Significance | Pathogenic |
| 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 |
| Variation | info |
| Gene | GJB2 |
| 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 |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763686delC |
| 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.
