chr12:101780287:C>T Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,174,065-102,174,065 View the variant detail on this assembly version. |
| hg38 | chr12:101,780,287-101,780,287 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.637-1G>A | |
| Ensemble | ENST00000299314.12:c.637-1G>A | |
| ENST00000549940.5:c.637-1G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
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 | Mucolipidosis type II |
unknown
|
Detail | |
|
Likely pathogenic
|
2022-02-03 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
|
Detail |
|
Likely pathogenic
|
2022-02-03 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
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.637-1G>A AND Mucolipidosis type II | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.637-1G>A AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.637-1G>A AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs281864962 dbSNP
- Genome
- hg38
- Position
- chr12:101,780,287-101,780,287
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser