chr1:94019625:A>C Detail (hg38) (ABCA4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:94,485,181-94,485,181 View the variant detail on this assembly version. |
| hg38 | chr1:94,019,625-94,019,625 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000350.2:c.5153T>G | NP_000341.2:p.Val1718Gly |
| Ensemble | ENST00000370225.4:c.5153T>G | ENST00000370225.4:p.Val1718Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2016-01-01 | criteria provided, single submitter | Severe early-childhood-onset retinal dystrophy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000350.2(ABCA4):c.[2588G>C;5153T>G] AND Severe early-childhood-onset retinal dystrophy | ClinVar | 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
- rs886044732 dbSNP
- Genome
- hg38
- Position
- chr1:94,019,625-94,019,625
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser