chr13:20189388:T>C Detail (hg38) (GJB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:20,763,527-20,763,527 View the variant detail on this assembly version. |
| hg38 | chr13:20,189,388-20,189,388 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004004.5:c.194A>G | NP_003995.2:p.Tyr65Cys |
| Ensemble | ENST00000382844.2:c.194A>G | ENST00000382844.2:p.Tyr65Cys |
| ENST00000382848.5:c.194A>G | ENST00000382848.5:p.Tyr65Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2006-10-28 | no assertion criteria provided | Rare genetic deafness |
germline
|
Detail |
Uncertain significance
|
2021-09-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-06-02 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A |
germline
|
Detail |
|
Uncertain significance
|
2024-03-27 | criteria provided, single submitter | not specified |
germline
|
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.194A>G (p.Tyr65Cys) AND Rare genetic deafness | ClinVar | Detail |
| NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) AND not provided | ClinVar | Detail |
| NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) AND Autosomal recessive nonsyndromic hearing loss 1A | ClinVar | Detail |
| NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) AND not specified | 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
- rs111033203 dbSNP
- Genome
- hg38
- Position
- chr13:20,189,388-20,189,388
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser