chr1:94008767:A>G Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,474,323-94,474,323 View the variant detail on this assembly version. |
| hg38 | chr1:94,008,767-94,008,767 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.5819T>C | NP_000341.2:p.Leu1940Pro |
| Ensemble | ENST00000370225.4:c.5819T>C | ENST00000370225.4:p.Leu1940Pro |
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
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2020-01-27 | criteria provided, single submitter | Stargardt disease |
germline
|
Detail |
|
Pathogenic
|
2008-07-01 | no assertion criteria provided | Severe early-childhood-onset retinal dystrophy |
germline
|
Detail |
|
Pathogenic
|
2008-07-01 | no assertion criteria provided | cone-rod dystrophy 3 |
germline
|
Detail |
|
Pathogenic
|
2023-11-13 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.442 | STARGARDT DISEASE 1 (disorder) | NA | CLINVAR | Detail | |
| 0.440 | CONE-ROD DYSTROPHY 3 (disorder) | NA | CLINVAR | Detail | |
| 0.247 | Stargardt's disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND Stargardt disease | ClinVar | Detail |
| NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND Severe early-childhood-onset retinal dystrophy | ClinVar | Detail |
| NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND Cone-rod dystrophy 3 | ClinVar | Detail |
| NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs61753033 dbSNP
- Genome
- hg38
- Position
- chr1:94,008,767-94,008,767
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121410
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236553825879253E-6
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