Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C
(
ENST00000397262.5,
ENST00000381330.5,
ENST00000397270.1,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( 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.287G>C (p.Cys96Ser) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 79622
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.287G>C
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.187+887G>C
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.287G>C
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.287G>C
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.287G>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059612
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- not provided
Drugs