chr12:101780274:CTTT> Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,174,052-102,174,055 |
| hg38 | chr12:101,780,274-101,780,277 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.646_649delAAAG | NP_077288.2:p.Glu217SerfsTer4 |
| Ensemble | ENST00000299314.12:c.646_649delAAAG | ENST00000299314.12:p.Glu217SerfsTer4 |
| ENST00000549940.5:c.646_649delAAAG | ENST00000549940.5:p.Glu217SerfsTer4 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-05-19 | no assertion criteria provided | Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-05-19 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-05-19 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
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.648_651del (p.Glu217fs) AND Mucolipidosis type II | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) 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
- rs281864963 dbSNP
- Genome
- hg38
- Position
- chr12:101,780,274-101,780,277
- Variant Type
- snv
- Reference Allele
- CTTT
- Alternative Allele
- -
Genome browser