chr6:65301373:T> Detail (hg19) (EYS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:65,301,373-65,301,373 |
| hg38 | chr6:64,591,480-64,591,480 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001142800.1:c.4387delA | NP_001136272.1:p.Arg1463GlyfsTer15 |
| NM_001292009.1:c.4387delA | NP_001278938.1:p.Arg1463GlyfsTer15 | |
| Ensemble | ENST00000503581.6:c.4387delA | ENST00000503581.6:p.Arg1463GlyfsTer15 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
retinitis pigmentosa |
germline
|
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
no assertion criteria provided | retinitis pigmentosa |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.370 | retinitis pigmentosa | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001142800.2(EYS):c.4387del (p.Arg1463fs) AND Retinitis pigmentosa | 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
- rs527236075 dbSNP
- Genome
- hg19
- Position
- chr6:65,301,373-65,301,373
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser