Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg694Gln (p.R694Q)
(
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Arg694Gln (p.R694Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- hypothyroidism
- Source Database
- DisGeNET
- Description
- We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woman with hypothyroidism due to atrophic Hashimoto's thyroiditis and primary ovarian failure, without altered calcitonin secretion.
- Pubmed
- 15472167
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2004
Drugs