chr3:33065789:G>T Detail (hg19) (GLB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,065,789-33,065,789 |
| hg38 | chr3:33,024,297-33,024,297 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.1097C>A | NP_000395.2:p.Pro366His |
| NM_001317040.1:c.1097C>A | NP_001303969.1:p.Pro366His | |
| NM_001135602.2:c.704C>A | NP_001129074.1:p.Pro235His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2016-05-13 | no assertion criteria provided | Mucopolysaccharidosis, MPS-IV-B |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.367 | mucopolysaccharidosis type IVB | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000404.2(GLB1):c.[1285C>T;1097C>A] AND Mucopolysaccharidosis, MPS-IV-B | ClinVar | 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
- rs797045010 dbSNP
- Genome
- hg19
- Position
- chr3:33,065,789-33,065,789
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser