Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Tyr103Cys (p.Y103C), INS-IGF2 c.187+908A>G
(
ENST00000381330.5,
ENST00000397270.1,
ENST00000397262.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Tyr103Cys (p.Y103C), INS-IGF2 c.187+908A>G ( 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.308A>G (p.Tyr103Cys) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 79624
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.308A>G
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.187+908A>G
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.308A>G
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.308A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.308A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059614
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs