chr3:52021661:A>T Detail (hg19) (ACY1, ABHD14A-ACY1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:52,021,661-52,021,661 |
| hg38 | chr3:51,987,645-51,987,645 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000463937.1:c.1224+21A>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001198898.1:c.816+21A>T | |
| NM_001198897.1:c.726+21A>T | ||
| NM_001198896.1:c.705+21A>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 38856 | HGNC | |
| Ensembl | ENSG00000114786 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2019-11-22 | criteria provided, single submitter | Aminoacylase 1 deficiency |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000666.3(ACY1):c.921+21A>T AND Aminoacylase 1 deficiency | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1701122828 dbSNP
- Genome
- hg19
- Position
- chr3:52,021,661-52,021,661
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser