chr6:64472413:A>T Detail (hg19) (EYS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:64,472,413-64,472,413 |
| hg38 | chr6:63,762,520-63,762,520 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001292009.1:c.8012T>A | NP_001278938.1:p.Leu2671Ter |
| NM_001142800.1:c.8012T>A | NP_001136272.1:p.Leu2671Ter | |
| Ensemble | ENST00000370621.7:c.8012T>A | ENST00000370621.7:p.Leu2671Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
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 | |
|
Pathogenic
|
2024-01-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-10-10 | criteria provided, single submitter | retinitis pigmentosa 25 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-10-01 | criteria provided, single submitter | Retinal dystrophy |
germline
|
Detail |
|
Pathogenic
|
2023-11-28 | criteria provided, single submitter | EYS-related disorder |
germline
|
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.8012T>A (p.Leu2671Ter) AND Retinitis pigmentosa | ClinVar | Detail |
| NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) AND not provided | ClinVar | Detail |
| NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) AND Retinitis pigmentosa 25 | ClinVar | Detail |
| NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) AND Retinal dystrophy | ClinVar | Detail |
| NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) AND EYS-related disorder | 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
- rs527236076 dbSNP
- Genome
- hg19
- Position
- chr6:64,472,413-64,472,413
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser