chr12:101753472:GA> Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,147,250-102,147,251 |
| hg38 | chr12:101,753,472-101,753,473 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.3501_3502delTC | NP_077288.2:p.Leu1168GlnfsTer5 |
| Ensemble | ENST00000299314.12:c.3501_3502delTC | ENST00000299314.12:p.Leu1168GlnfsTer5 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
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
- -
- Genome
- hg38
- Position
- chr12:101,753,472-101,753,473
- Variant Type
- snv
- Reference Allele
- GA
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121350
- Allele Counts in All Race (ExAC)
- 66
- Heterozygous Counts in All Race (ExAC)
- 66
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.438813349814586E-4
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