Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T
(
ENST00000397262.5,
ENST00000397270.1,
ENST00000381330.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Diabetes mellitus, permanent neonatal 4
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.265C>T (p.Arg89Cys) AND Diabetes mellitus, permanent neonatal 4
- ClinVar Allele ID
- 33969
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.265C>T
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.265C>T
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.265C>T
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.265C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.187+865C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001089453
- ClinVar Disease
- Diabetes mellitus, permanent neonatal 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 18162506
- Pubmed
- 18171712
- Pubmed
- 18451997
- Pubmed
- 17855560
Drugs