chr3:33110461:A>C Detail (hg19) (GLB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,110,461-33,110,461 |
| hg38 | chr3:33,068,969-33,068,969 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.247T>G | NP_000395.2:p.Tyr83Asp |
| NM_001317040.1:c.247T>G | NP_001303969.1:p.Tyr83Asp | |
| NM_001135602.2:c.246-3412T>G |
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 |
|---|---|---|---|---|---|
| 0.367 | mucopolysaccharidosis type IVB | 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
- hg19
- Position
- chr3:33,110,461-33,110,461
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8544
- East Asian Allele Counts (ExAC)
- 8
- East Asian Heterozygous Counts (ExAC)
- 8
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 9.363295880149813E-4
- Chromosome Counts in All Race (ExAC)
- 119436
- Allele Counts in All Race (ExAC)
- 142
- Heterozygous Counts in All Race (ExAC)
- 142
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0011889212632707057
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