Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Gln1259ArgfsTer72 (p.Q1259Rfs*72)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Gln1259ArgfsTer72 (p.Q1259Rfs*72) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Cys1264Phe (p.C1264F) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Cys1264Tyr (p.C1264Y) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Leu1200Pro (p.L1200P) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asn948Thr (p.N948T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly490Arg (p.G490R) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Cys1264Phe (p.C1264F) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Cys1264Tyr (p.C1264Y) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Leu1200Pro (p.L1200P) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asn948Thr (p.N948T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly490Arg (p.G490R) ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Left ventricular noncompaction 10
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs