chr11:2159919:C>A Detail (hg38) (INS, INS-IGF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,181,149-2,181,149 View the variant detail on this assembly version. |
| hg38 | chr11:2,159,919-2,159,919 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000207.2:c.266G>T | NP_000198.1:p.Arg89Leu |
| NM_001185097.1:c.266G>T | NP_001172026.1:p.Arg89Leu | |
| NM_001185098.1:c.266G>T | NP_001172027.1:p.Arg89Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001042376.2:c.187+866G>T | |
| Ensemble | ENST00000397270.1:c.187+866G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 176730 | OMIM |
| HGNC | 6081 | HGNC | |
| Ensembl | ENSG00000254647 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 33527 | HGNC | |
| Ensembl | ENSG00000129965 | 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 |
|---|---|---|---|---|---|
Pathogenic
|
1992-06-01 | no assertion criteria provided | Hyperproinsulinemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.123 | Hyperproinsulinemia | These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) an... | BeFree | 20034470 | Detail |
| 0.123 | Hyperproinsulinemia | Two unrelated patients with familial hyperproinsulinemia due to a mutation subst... | UNIPROT | 2196279 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000207.3(INS):c.266G>T (p.Arg89Leu) AND Hyperproinsulinemia | ClinVar | Detail |
| These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secrete... | DisGeNET | Detail |
| Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine fo... | 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
- rs28933985 dbSNP
- Genome
- hg38
- Position
- chr11:2,159,919-2,159,919
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser