Annotation Detail
Information
- Associated Genes
- TBX1
- Associated Variants
-
NF1 p.Arg1241Ter (p.R1241*)
(
ENST00000691014.1,
ENST00000356175.7,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Arg1241Ter (p.R1241*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT).
- Pubmed
- 12483293
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2003
Drugs