chr3:33110461:A>G 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>C | NP_000395.2:p.Tyr83His |
| NM_001317040.1:c.247T>C | NP_001303969.1:p.Tyr83His | |
| NM_001135602.2:c.246-3412T>C |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1995-08-01 | 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_000404.4(GLB1):c.247T>C (p.Tyr83His) 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
- rs72555364 dbSNP
- Genome
- hg19
- Position
- chr3:33,110,461-33,110,461
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser