Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS p.Arg89Leu (p.R89L), INS-IGF2 c.187+866G>T
(
ENST00000512523.1,
ENST00000381330.5,
ENST00000397270.1,
ENST00000397262.5,
ENST00000250971.7 )
INS p.Arg89Pro (p.R89P), INS-IGF2 c.187+866G>C ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89Leu (p.R89L), INS-IGF2 c.187+866G>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89Pro (p.R89P), INS-IGF2 c.187+866G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Hyperproinsulinemia
- Source Database
- DisGeNET
- Description
- Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
- Pubmed
- 2196279
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.122985860592883
- Year of publication
- 1990
Drugs