chr3:33138502:C>G Detail (hg19) (GLB1, TMPPE, LOC129936434)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:33,138,502-33,138,502 |
| hg38 | chr3:33,097,010-33,097,010 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000404.3:c.75+1G>C | |
| NM_001317040.1:c.75+1G>C | ||
| NM_001135602.2:c.75+1G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001039770.2:c.-400G>C | |
| Ensemble | ENST00000342462.5:c.-400G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| 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
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.367 | mucopolysaccharidosis type IVB | NA | CLINVAR | Detail | |
| 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.75+1G>C AND not provided | ClinVar | Detail |
| NM_000404.4(GLB1):c.75+1G>C AND GM1 gangliosidosis | ClinVar | Detail |
| NA | DisGeNET | 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
- rs398123358 dbSNP
- Genome
- hg19
- Position
- chr3:33,138,502-33,138,502
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8178
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 112000
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.6785714285714284E-5
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