Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A
(
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Hyperproinsulinemia
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.266G>A (p.Arg89His) AND Hyperproinsulinemia
- ClinVar Allele ID
- 28419
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.187+866G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-08-03
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014310
- ClinVar Disease
- Hyperproinsulinemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8636380
- Pubmed
- 7242673
- Pubmed
- 4019786
- Pubmed
- 2196279
- Pubmed
- 6368587
- Pubmed
- 9667398
Drugs