chr1:94490595:G>A Detail (hg19) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,490,595-94,490,595 |
| hg38 | chr1:94,025,039-94,025,039 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.4549C>T | NP_000341.2:p.Arg1517Cys |
| Ensemble | ENST00000370225.4:c.4549C>T | ENST00000370225.4:p.Arg1517Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2017-04-28 | criteria provided, single submitter | ABCA4-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Macular Degeneration, Age-Related, 2 | NA | UNIPROT | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.4549C>T (p.Arg1517Cys) AND ABCA4-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
- rs1800550 dbSNP
- Genome
- hg19
- Position
- chr1:94,490,595-94,490,595
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser