chr3:33093754:G>T Detail (hg38) (GLB1, TMPPE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,135,246-33,135,246 View the variant detail on this assembly version. |
| hg38 | chr3:33,093,754-33,093,754 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.75+3257C>A | |
| NM_001317040.1:c.75+3257C>A | ||
| NM_001135602.2:c.75+3257C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001039770.2:c.442C>A | NP_001034859.2:p.Arg148Ser |
| NM_001136238.1:c.31C>A | NP_001129710.1:p.Arg11Ser | |
| Ensemble | ENST00000342462.5:c.442C>A | ENST00000342462.5:p.Arg148Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 611458 | OMIM |
| HGNC | 4298 | HGNC | |
| Ensembl | ENSG00000170266 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 33865 | HGNC | |
| Ensembl | ENSG00000188167 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.362 | Gangliosidosis, Generalized GM1, Type 1 (disorder) | A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbou... | BeFree | 21497194 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic var... | 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
- rs369965720 dbSNP
- Genome
- hg38
- Position
- chr3:33,093,754-33,093,754
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser