Annotation Detail
Information
- Associated Genes
- CRAT
- Associated Variants
-
CRAT p.Arg27His (p.R27H)
(
ENST00000318080.7,
ENST00000393384.3,
ENST00000455396.2,
ENST00000680117.1,
ENST00000681325.1,
ENST00000681627.1,
ENST00000681725.1 )
CRAT p.Arg27His (p.R27H) ( ENST00000318080.7, ENST00000393384.3, ENST00000455396.2, ENST00000680117.1, ENST00000681325.1, ENST00000681627.1, ENST00000681725.1 ) - Associated Disease
- Elliptocytosis, Hereditary
- Source Database
- DisGeNET
- Description
- Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.
- Pubmed
- 2328319
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 1990
Drugs