chr12:102164296:C>A Detail (hg19) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,164,296-102,164,296 |
| hg38 | chr12:101,770,518-101,770,518 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.1001G>T | NP_077288.2:p.Arg334Leu |
| Ensemble | ENST00000299314.12:c.1001G>T | ENST00000299314.12:p.Arg334Leu |
| ENST00000549940.5:c.1001G>T | ENST00000549940.5:p.Arg334Leu |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
unknown
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Mucolipidosis type II |
unknown
|
Detail | |
|
Likely pathogenic
|
2019-11-12 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Likely pathogenic
|
2019-11-12 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Pseudo-Hurler polydystrophy | NA | CLINVAR | Detail | |
| 0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) AND Mucolipidosis type II | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | 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
- rs281864970 dbSNP
- Genome
- hg19
- Position
- chr12:102,164,296-102,164,296
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser