chr11:2182059:A>C Detail (hg19) (INS, INS-IGF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,182,059-2,182,059 |
| hg38 | chr11:2,160,829-2,160,829 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001185098.1:c.143T>G | NP_001172027.1:p.Phe48Cys |
| NM_001291897.1:c.143T>G | NP_001278826.1:p.Phe48Cys | |
| NM_000207.2:c.143T>G | NP_000198.1:p.Phe48Cys |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001042376.2:c.143T>G | NP_001035835.1:p.Phe48Cys |
| Ensemble | ENST00000397270.1:c.143T>G | ENST00000397270.1:p.Phe48Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
Likely risk allele
|
| Review star |  |
| 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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | permanent neonatal diabetes mellitus |
not provided
unknown
|
Detail | |
| Likely risk allele | criteria provided, single submitter | Diabetes mellitus, permanent neonatal 4 |
germline
unknown
|
Detail | |
|
Likely pathogenic
|
criteria provided, single submitter | Neonatal diabetes mellitus |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.007 | insulinoma | We examined the subcellular localization and secretion of 13 neonatal diabetes-a... | BeFree | 20034470 | Detail |
| 0.568 | DIABETES MELLITUS, PERMANENT NEONATAL | Insulin gene mutations as a cause of permanent neonatal diabetes. | UNIPROT | 17855560 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000207.3(INS):c.143T>G (p.Phe48Cys) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000207.3(INS):c.143T>G (p.Phe48Cys) AND Diabetes mellitus, permanent neonatal 4 | ClinVar | Detail |
| NM_000207.3(INS):c.143T>G (p.Phe48Cys) AND Neonatal diabetes mellitus | ClinVar | Detail |
| We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi... | DisGeNET | Detail |
| Insulin gene mutations as a cause of permanent neonatal diabetes. | 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
- rs80356668 dbSNP
- Genome
- hg19
- Position
- chr11:2,182,059-2,182,059
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser