chr12:101745499:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,139,277-102,224,737 |
| hg38 | chr12:101,745,499-101,830,959 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Type II Mucolipidosis | Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of... | BeFree,ORPHANET | 25505245 | Detail |
| 0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.017 | Mucolipidoses | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | stuttering | Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dys... | BeFree | 25643770 | Detail |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Lysosomal Storage Diseases | GNPTAB encodes the α and β subunits of GlcNAc-1-phosphotransferase, and mutation... | BeFree | 25505245 | Detail |
| <0.001 | specific language impairment | This, together with the different brain expression patterns of GNPTAB, GNPTG, an... | BeFree | 24807205 | Detail |
| <0.001 | dyslexia | Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dys... | BeFree | 25643770 | Detail |
| <0.001 | Developmental reading disorder | Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also ... | BeFree | 25643770 | Detail |
| <0.001 | mucolipidosis III gamma | NA | BeFree | Detail | |
| 0.120 | Mucolipidosis 2 | NA | ORPHANET | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosoma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese pop... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| GNPTAB encodes the α and β subunits of GlcNAc-1-phosphotransferase, and mutations in this gene cause... | DisGeNET | Detail |
| This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to ... | DisGeNET | Detail |
| Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese pop... | DisGeNET | Detail |
| Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with devel... | DisGeNET | 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
- rs397507443 dbSNP
- Genome
- hg38
- Position
- chr12:101,745,499-101,830,959
- Variant Type
- snv
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