Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Lys652Gln (p.K652Q)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000481110.7,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Gln (p.K652Q) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Hypochondroplasia (disorder)
- Source Database
- DisGeNET
- Description
- Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
- Pubmed
- 21510009
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.494929302964417
- Year of publication
- 2010
Drugs