Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser891Ala (p.S891A)
(
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Ser891Ala (p.S891A) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substitution of an alanine for a serine at codon 891 in a family with medullary thyroid carcinoma.
- Pubmed
- 9398735
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 1997
Drugs