chr13:20189117:A>T Detail (hg38) (GJB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:20,763,256-20,763,256 View the variant detail on this assembly version. |
| hg38 | chr13:20,189,117-20,189,117 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004004.5:c.465T>A | NP_003995.2:p.Tyr155Ter |
| Ensemble | ENST00000382844.2:c.465T>A | ENST00000382844.2:p.Tyr155Ter |
| ENST00000382848.5:c.465T>A | ENST00000382848.5:p.Tyr155Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2018-06-07 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-03-01 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 1A |
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.465T>A (p.Tyr155Ter) AND not provided | ClinVar | Detail |
| NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) 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
- rs772264564 dbSNP
- Genome
- hg38
- Position
- chr13:20,189,117-20,189,117
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121056
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.260639703938672E-6
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