chr13:20763387:TT> Detail (hg19) (GJB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:20,763,387-20,763,388 |
| hg38 | chr13:20,189,248-20,189,249 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004004.5:c.333_334delAA | NP_003995.2:p.Lys112GlufsTer2 |
| Ensemble | ENST00000382844.2:c.333_334delAA | ENST00000382844.2:p.Lys112GlufsTer2 |
| ENST00000382848.5:c.333_334delAA | ENST00000382848.5:p.Lys112GlufsTer2 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2017-05-09 | criteria provided, multiple submitters, no conflicts | Autosomal recessive nonsyndromic hearing loss 1A |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-09 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2019-08-27 | criteria provided, single submitter | Rare genetic deafness |
germline
|
Detail |
|
Pathogenic
|
2013-03-21 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2020-08-21 | criteria provided, single submitter | Nonsyndromic genetic hearing loss |
germline
|
Detail |
|
Pathogenic
|
2022-03-22 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A |
germline
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-11-18 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,palmoplantar keratoderma-deafness syndrome,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Autosomal recessive nonsyndromic hearing loss 1A | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND not provided | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Rare genetic deafness | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Hearing loss | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Nonsyndromic genetic hearing loss | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND Autosomal recessive nonsyndromic hearing loss 1A | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NM_004004.6(GJB2):c.334_335del (p.Lys112fs) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs756484720 dbSNP
- Genome
- hg19
- Position
- chr13:20,763,387-20,763,388
- Variant Type
- snv
- Reference Allele
- TT
- Alternative Allele
- -
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