Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Arg218Cys (p.R218C)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1 )
TGFB1 p.Arg218Cys (p.R218C) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 ) - Associated Disease
- Camurati-Engelmann Syndrome
- Source Database
- DisGeNET
- Description
- Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity.
- Pubmed
- 23729546
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.489977335918515
- Year of publication
- 2013
Drugs