Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G)
(
ENST00000512523.1,
ENST00000250971.7,
ENST00000381330.5,
ENST00000397270.1,
ENST00000397262.5 )
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- permanent neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.127T>G (p.Cys43Gly) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 33966
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.127T>G
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.186T>G
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.127T>G
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.127T>G
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.127T>G
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.127T>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020204
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs