chr13:20763123:C>A Detail (hg19) (GJB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:20,763,123-20,763,123 |
| hg38 | chr13:20,188,984-20,188,984 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004004.5:c.598G>T | NP_003995.2:p.Gly200Ter |
| Ensemble | ENST00000382844.2:c.598G>T | ENST00000382844.2:p.Gly200Ter |
| ENST00000382848.5:c.598G>T | ENST00000382848.5:p.Gly200Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-09-23 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A |
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.598G>T (p.Gly200Ter) AND Autosomal recessive nonsyndromic hearing loss 1A | 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
- rs786204597 dbSNP
- Genome
- hg19
- Position
- chr13:20,763,123-20,763,123
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser