chr12:101757597:C> Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,151,375-102,151,375 |
| hg38 | chr12:101,757,597-101,757,597 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.3310delG | NP_077288.2:p.Ala1104HisfsTer22 |
| Ensemble | ENST00000299314.12:c.3310delG | ENST00000299314.12:p.Ala1104HisfsTer22 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
unknown
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Mucolipidosis type II |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) AND Mucolipidosis type II | ClinVar | 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
- rs281865013 dbSNP
- Genome
- hg38
- Position
- chr12:101,757,597-101,757,597
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser