chr12:102158507:A>TTT Detail (hg19) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,158,507-102,158,507 |
| hg38 | chr12:101,764,729-101,764,729 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.2188delinsAAA | NP_077288.2:p.Leu730LysfsTer8 |
| Ensemble | ENST00000299314.12:c.2188delinsAAA | ENST00000299314.12:p.Leu730LysfsTer8 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2012-05-10 | no assertion criteria provided | Mucolipidosis type II |
not provided
|
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.2188delinsAAA (p.Leu730fs) 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
- rs34161232 dbSNP
- Genome
- hg19
- Position
- chr12:102,158,507-102,158,507
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- TTT
Genome browser