chr8:72156856:T> Detail (hg19) (EYA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:72,156,856-72,156,856 |
| hg38 | chr8:71,244,621-71,244,621 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000503.5:c.1122delA | NP_000494.2:p.Leu374PhefsTer6 |
| NM_001288574.1:c.1122delA | NP_001275503.1:p.Leu374PhefsTer6 | |
| NM_001288575.1:c.1122delA | NP_001275504.1:p.Leu374PhefsTer6 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
germline
|
MGS000071
(TMGS000143) |
Kenjiro Kosaki |
Keio University Kobe Universtiy |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2011-02-14 | criteria provided, single submitter | Rare genetic deafness |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.584 | Branchio-Oto-Renal Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000503.6(EYA1):c.1122del (p.Leu374fs) AND Rare genetic deafness | 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
- rs397517916 dbSNP
- Genome
- hg19
- Position
- chr8:72,156,856-72,156,856
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser