Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S)
(
ENST00000512523.1,
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000250971.7 )
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.94G>A (p.Gly32Ser) AND Neonatal diabetes mellitus
- ClinVar Allele ID
- 33974
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.94G>A
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.94G>A
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.94G>A
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.153G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.94G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.94G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030072
- ClinVar Disease
- Neonatal diabetes mellitus
- Observed Origin Sample
- germline
Drugs