chr12:101764200:A>C Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,157,978-102,157,978 View the variant detail on this assembly version. |
| hg38 | chr12:101,764,200-101,764,200 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.2715+2T>G | |
| Ensemble | ENST00000299314.12:c.2715+2T>G |
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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Pseudo-Hurler polydystrophy |
unknown
|
Detail | |
|
Pathogenic
Likely pathogenic
|
2023-08-28 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-08-28 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-10-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-12-02 | criteria provided, single submitter | mucolipidosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Pseudo-Hurler polydystrophy | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.2715+2T>G AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2715+2T>G AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2715+2T>G AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2715+2T>G AND not provided | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2715+2T>G AND Mucolipidosis | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs281865001 dbSNP
- Genome
- hg38
- Position
- chr12:101,764,200-101,764,200
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser