chr12:101771081:T> Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,164,859-102,164,859 |
| hg38 | chr12:101,771,081-101,771,081 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.848delA | NP_077288.2:p.Thr284LeufsTer5 |
| Ensemble | ENST00000299314.12:c.848delA | ENST00000299314.12:p.Thr284LeufsTer5 |
| ENST00000549940.5:c.848delA | ENST00000549940.5:p.Thr284LeufsTer5 |
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 |
|
Pathogenic
|
2022-02-17 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Pathogenic
|
2022-02-17 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
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.850del (p.Thr284fs) AND Mucolipidosis type II | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.850del (p.Thr284fs) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.850del (p.Thr284fs) AND multiple conditions | 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
- rs34517004 dbSNP
- Genome
- hg38
- Position
- chr12:101,771,081-101,771,081
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser