chr1:94063157:C>G Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,528,713-94,528,713 View the variant detail on this assembly version. |
| hg38 | chr1:94,063,157-94,063,157 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.1715G>C | NP_000341.2:p.Arg572Pro |
| Ensemble | ENST00000370225.4:c.1715G>C | ENST00000370225.4:p.Arg572Pro |
| ENST00000649773.1:c.1715G>C | ENST00000649773.1:p.Arg572Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2024-01-08 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Pathogenic
|
2019-04-12 | criteria provided, single submitter | Retinal dystrophy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | NA | CLINVAR | Detail | |
| 0.442 | STARGARDT DISEASE 1 (disorder) | Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibri... | UNIPROT | 10746567 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) AND not provided | ClinVar | Detail |
| NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) AND Retinal dystrophy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles,... | 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
- rs61748559 dbSNP
- Genome
- hg38
- Position
- chr1:94,063,157-94,063,157
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser