chr1:94001069:G>A Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,466,625-94,466,625 View the variant detail on this assembly version. |
| hg38 | chr1:94,001,069-94,001,069 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.6319C>T | NP_000341.2:p.Arg2107Cys |
| Ensemble | ENST00000370225.4:c.6319C>T | ENST00000370225.4:p.Arg2107Cys |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2018-04-01 | no assertion criteria provided | Stargardt disease |
unknown
|
Detail |
|
Pathogenic
|
2017-03-03 | criteria provided, single submitter | Retinal dystrophy |
germline
|
Detail |
|
Pathogenic
|
2023-05-29 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or con... | UNIPROT | 11527935 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) AND Stargardt disease | ClinVar | Detail |
| NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) AND Retinal dystrophy | ClinVar | Detail |
| NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) AND not provided | ClinVar | Detail |
| Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 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
- rs2297669 dbSNP
- Genome
- hg38
- Position
- chr1:94,001,069-94,001,069
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8636
- 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)
- 121244
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.649566164098842E-5
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