chr11:2159898:C>T Detail (hg38) (INS, INS-IGF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,181,128-2,181,128 View the variant detail on this assembly version. |
| hg38 | chr11:2,159,898-2,159,898 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000207.2:c.287G>A | NP_000198.1:p.Cys96Tyr |
| NM_001185097.1:c.287G>A | NP_001172026.1:p.Cys96Tyr | |
| NM_001185098.1:c.287G>A | NP_001172027.1:p.Cys96Tyr |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001042376.2:c.187+887G>A | |
| Ensemble | ENST00000397270.1:c.187+887G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| 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 | |
Pathogenic
|
2014-06-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
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 |
|---|---|---|---|---|---|
| 0.568 | DIABETES MELLITUS, PERMANENT NEONATAL | Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS... | UNIPROT | 18162506 | Detail |
| 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 |
| 0.568 | DIABETES MELLITUS, PERMANENT NEONATAL | Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the ... | BeFree | 18981553 | Detail |
| 0.020 | Neonatal diabetes mellitus | The approach involves the transgenic expression of a misfolded mutant of human p... | BeFree | 24281154 | Detail |
| 0.295 | diabetes mellitus | Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the... | BeFree | 17303807 | Detail |
| 0.020 | Neonatal diabetes mellitus | Akita mice, which harbor a human permanent neonatal diabetes-linked mutation (Cy... | BeFree | 23416061 | Detail |
| 0.274 | hyperglycemia | The Akita mouse with a missense mutation (Cys96Tyr) in the insulin 2 gene has hy... | BeFree | 14610263 | Detail |
| 0.080 | Diabetes | Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the... | BeFree | 17303807 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) AND not provided | ClinVar | Detail |
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) AND Diabetes mellitus, permanent neonatal 4 | ClinVar | Detail |
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) AND Neonatal diabetes mellitus | ClinVar | Detail |
| Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common c... | DisGeNET | 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 |
| Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case... | DisGeNET | Detail |
| The approach involves the transgenic expression of a misfolded mutant of human preproinsulin, hINS(C... | DisGeNET | Detail |
| Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-... | DisGeNET | Detail |
| Akita mice, which harbor a human permanent neonatal diabetes-linked mutation (Cys96Tyr) in the insul... | DisGeNET | Detail |
| The Akita mouse with a missense mutation (Cys96Tyr) in the insulin 2 gene has hyperglycemia and a re... | DisGeNET | Detail |
| Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-... | 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
- rs80356671 dbSNP
- Genome
- hg38
- Position
- chr11:2,159,898-2,159,898
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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