Annotation Detail
Information
- Associated Genes
- INS
- 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.Ser101Cys (p.S101C), INS-IGF2 c.187+902C>G ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000512523.1, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7 )
INS p.Leu35Pro (p.L35P), INS-IGF2 p.Leu35Pro (p.L35P) ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.His29Asp (p.H29D), INS-IGF2 p.His29Asp (p.H29D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397270.1, ENST00000397262.5, ENST00000512523.1 )
INS p.Tyr103Cys (p.Y103C), INS-IGF2 c.187+908A>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ser101Cys (p.S101C), INS-IGF2 c.187+902C>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Leu35Pro (p.L35P), INS-IGF2 p.Leu35Pro (p.L35P) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.His29Asp (p.H29D), INS-IGF2 p.His29Asp (p.H29D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
- Pubmed
- 18162506
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.568414698034489
- Year of publication
- 2008
Drugs