chr1:94564500:G>A Detail (hg19) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,564,500-94,564,500 |
| hg38 | chr1:94,098,944-94,098,944 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.618C>T | NP_000341.2:p.Ser206= |
| Ensemble | ENST00000370225.4:c.618C>T | ENST00000370225.4:p.Ser206= |
| ENST00000649773.1:c.618C>T | ENST00000649773.1:p.Ser206= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely benign
|
2017-02-10 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely benign
|
2024-01-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
2017-10-17 | criteria provided, single submitter | ABCA4-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from diff... | UNIPROT | 10206579 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.618C>T (p.Ser206=) AND not specified | ClinVar | Detail |
| NM_000350.3(ABCA4):c.618C>T (p.Ser206=) AND not provided | ClinVar | Detail |
| NM_000350.3(ABCA4):c.618C>T (p.Ser206=) AND ABCA4-related disorder | ClinVar | Detail |
| Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were... | 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
- rs61748536 dbSNP
- Genome
- hg19
- Position
- chr1:94,564,500-94,564,500
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8472
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 118200
- Allele Counts in All Race (ExAC)
- 106
- Heterozygous Counts in All Race (ExAC)
- 105
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.967851099830795E-4
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