chr1:94025050:T>C Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,490,606-94,490,606 View the variant detail on this assembly version. |
| hg38 | chr1:94,025,050-94,025,050 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.4540-2A>G | |
| Ensemble | ENST00000370225.4:c.4540-2A>G |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2023-10-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2018-12-31 | criteria provided, single submitter | Retinal dystrophy |
germline
|
Detail |
|
Pathogenic
|
2023-07-24 | criteria provided, single submitter | cone-rod dystrophy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.4540-2A>G AND not provided | ClinVar | Detail |
| NM_000350.3(ABCA4):c.4540-2A>G AND Retinal dystrophy | ClinVar | Detail |
| NM_000350.3(ABCA4):c.4540-2A>G AND Cone-rod dystrophy | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs61752435 dbSNP
- Genome
- hg38
- Position
- chr1:94,025,050-94,025,050
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser