Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Phe97del (p.F97del)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Phe97del (p.F97del) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Thr (p.A46T) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Glu (p.A46E) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Val (p.A46V) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Glu47Lys (p.E47K) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87His (p.L87H) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Thr (p.A46T) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Glu (p.A46E) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Val (p.A46V) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Glu47Lys (p.E47K) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87His (p.L87H) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- RIPPLING MUSCLE DISEASE 2 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs