Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V)
(
ENST00000397262.5,
ENST00000397270.1,
ENST00000381330.5,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000512523.1 )
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Lesion of brain
- Source Database
- DisGeNET
- Description
- In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.
- Pubmed
- 25765664
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs