Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR1 p.Pro250Arg (p.P250R)
(
ENST00000326324.10,
ENST00000335922.9,
ENST00000341462.9,
ENST00000356207.9,
ENST00000397091.9,
ENST00000397103.5,
ENST00000397108.8,
ENST00000397113.6,
ENST00000425967.8,
ENST00000447712.7,
ENST00000532791.5,
ENST00000683765.1,
ENST00000683815.1,
ENST00000684654.1,
ENST00000703405.1 )
FGFR1 p.Pro250Arg (p.P250R) ( ENST00000326324.10, ENST00000335922.9, ENST00000341462.9, ENST00000356207.9, ENST00000397091.9, ENST00000397103.5, ENST00000397108.8, ENST00000397113.6, ENST00000425967.8, ENST00000447712.7, ENST00000532791.5, ENST00000683765.1, ENST00000683815.1, ENST00000684654.1, ENST00000703405.1 ) - Associated Disease
- ACROCEPHALOPOLYSYNDACTYLY TYPE IV
- Source Database
- DisGeNET
- Description
- Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
- Pubmed
- 10861678
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2000
Drugs