chr3:33114112:A> Detail (hg19) (GLB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,114,112-33,114,112 |
| hg38 | chr3:33,072,620-33,072,620 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.169delT | NP_000395.2:p.Tyr57ThrfsTer14 |
| NM_001317040.1:c.169delT | NP_001303969.1:p.Tyr57ThrfsTer14 | |
| NM_001135602.2:c.169delT | NP_001129074.1:p.Tyr57ThrfsTer14 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-01-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.362 | Gangliosidosis, Generalized GM1, Type 1 (disorder) | NA | CLINVAR | Detail | |
| 0.441 | Gangliosidosis, Generalized GM1, Type 2 | NA | CLINVAR | Detail | |
| 0.361 | Gangliosidosis, Generalized GM1, Type 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000404.4(GLB1):c.169del (p.Tyr57fs) AND not provided | ClinVar | Detail |
| NA | 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
- rs794727249 dbSNP
- Genome
- hg19
- Position
- chr3:33,114,112-33,114,112
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser