chr12:102164297:G>A Detail (hg19) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,164,297-102,164,297 |
| hg38 | chr12:101,770,519-101,770,519 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.1000C>T | NP_077288.2:p.Arg334Ter |
| Ensemble | ENST00000299314.12:c.1000C>T | ENST00000299314.12:p.Arg334Ter |
| ENST00000549940.5:c.1000C>T | ENST00000549940.5:p.Arg334Ter |
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
|
2022-02-23 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-10-27 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-10-27 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-04-19 | no assertion criteria provided | 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.1000C>T (p.Arg334Ter) AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) AND not provided | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) AND Mucolipidosis type II | 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
- rs281864969 dbSNP
- Genome
- hg19
- Position
- chr12:102,164,297-102,164,297
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser