Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.His34Asp (p.H34D), INS-IGF2 p.His34Asp (p.H34D)
(
ENST00000381330.5,
ENST00000397270.1,
ENST00000397262.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.His34Asp (p.H34D), INS-IGF2 p.His34Asp (p.H34D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Hyperproinsulinemia
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.100C>G (p.His34Asp) AND Hyperproinsulinemia
- ClinVar Allele ID
- 28418
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.100C>G
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.100C>G
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.159C>G
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.100C>G
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.100C>G
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.100C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014308
- ClinVar Disease
- Hyperproinsulinemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 3306677
- Pubmed
- 3057496
- Pubmed
- 2991050
- Pubmed
- 3470784
- Pubmed
- 6382002
Drugs