chr3:33138577:T>G Detail (hg19) (GLB1, TMPPE, LOC129936434)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,138,577-33,138,577 |
| hg38 | chr3:33,097,085-33,097,085 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.1A>C | NP_000395.2:p.? |
| NM_001317040.1:c.1A>C | NP_001303969.1:p.? | |
| NM_001135602.2:c.1A>C | NP_001129074.1:p.? |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001039770.2:c.-475A>C | |
| Ensemble | ENST00000342462.5:c.-475A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| 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
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-04-30 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000404.4(GLB1):c.1A>C (p.Met1Leu) AND not provided | ClinVar | 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
- rs794726886 dbSNP
- Genome
- hg19
- Position
- chr3:33,138,577-33,138,577
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser