chr6:63984390:A> Detail (hg38) (EYS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:64,694,283-64,694,283 |
| hg38 | chr6:63,984,390-63,984,390 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001292009.1:c.7048delT | NP_001278938.1:p.Cys2350AlafsTer97 |
| NM_001142800.1:c.7048delT | NP_001136272.1:p.Cys2350AlafsTer97 | |
| Ensemble | ENST00000370621.7:c.7048delT | ENST00000370621.7:p.Cys2350AlafsTer97 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
no assertion criteria provided | retinitis pigmentosa |
not provided
|
Detail | |
Pathogenic
|
2023-10-27 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-10-01 | criteria provided, single submitter | Retinal dystrophy |
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.7048del (p.Cys2350fs) AND Retinitis pigmentosa | ClinVar | Detail |
| NM_001142800.2(EYS):c.7048del (p.Cys2350fs) AND not provided | ClinVar | Detail |
| NM_001142800.2(EYS):c.7048del (p.Cys2350fs) AND Retinal dystrophy | 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
- rs527236069 dbSNP
- Genome
- hg38
- Position
- chr6:63,984,390-63,984,390
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser