chr12:101780152:C>T Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,173,930-102,173,930 View the variant detail on this assembly version. |
| hg38 | chr12:101,780,152-101,780,152 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.771G>A | NP_077288.2:p.Leu257= |
| Ensemble | ENST00000299314.12:c.771G>A | ENST00000299314.12:p.Leu257= |
| ENST00000549940.5:c.771G>A | ENST00000549940.5:p.Leu257= |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2005-02-01 | no assertion criteria provided | Mucolipidosis III alpha/beta, atypical |
germline
|
Detail |
|
Pathogenic
|
2012-05-10 | no assertion criteria provided | Pseudo-Hurler polydystrophy |
not provided
|
Detail |
|
Likely pathogenic
|
2023-12-02 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Likely pathogenic
|
2023-12-02 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Likely pathogenic
|
2021-09-13 | criteria provided, single submitter | mucolipidosis |
germline
|
Detail |
|
Likely pathogenic
|
2020-07-21 | 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 | |
| 0.120 | Mucolipidosis III Alpha Beta, Atypical | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND Mucolipidosis III alpha/beta, atypical | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND Mucolipidosis | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) 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
- rs281865025 dbSNP
- Genome
- hg38
- Position
- chr12:101,780,152-101,780,152
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser