chr12:101749181:G>A Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,142,959-102,142,959 View the variant detail on this assembly version. |
| hg38 | chr12:101,749,181-101,749,181 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.3613C>T | NP_077288.2:p.Arg1205Ter |
| Ensemble | ENST00000299314.12:c.3613C>T | ENST00000299314.12:p.Arg1205Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2012-05-10 | no assertion criteria provided | Pseudo-Hurler polydystrophy |
not provided
|
Detail |
|
Pathogenic
|
2022-05-09 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-09-09 | criteria provided, single submitter | mucolipidosis |
germline
|
Detail |
|
Pathogenic
|
2023-02-16 | criteria provided, single submitter | not provided |
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.3613C>T (p.Arg1205Ter) AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND Mucolipidosis type II | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND Mucolipidosis | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND not provided | 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
- rs35333334 dbSNP
- Genome
- hg38
- Position
- chr12:101,749,181-101,749,181
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser