Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S)
(
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Hyperproinsulinemia
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.143T>C (p.Phe48Ser) AND Hyperproinsulinemia
- ClinVar Allele ID
- 28417
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.202T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-01-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014307
- ClinVar Disease
- Hyperproinsulinemia
- Observed Origin Sample
- germline
- Pubmed
- 6339950
- Pubmed
- 8421693
- Pubmed
- 6312455
- Pubmed
- 6371526
Drugs