Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 p.Lys814del (p.K814del)
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 p.Arg502GlnfsTer27 (p.R502Qfs*27) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Lys814del (p.K814del) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg502GlnfsTer27 (p.R502Qfs*27) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg1267His (p.R1267H) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Tyr1136= (p.Y1136=) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Tyr1136Ter (p.Y1136*) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asp1076Gly (p.D1076G) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.3190+5G>A ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.3190+2T>G ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.3190+2T>C ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.3190+2T>A ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gln1061Ter (p.Q1061*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Thr1046Met (p.T1046M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu1017Lys (p.E1017K) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Arg970Trp (p.R970W) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Thr958Ile (p.T958I) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val846Asp (p.V846D) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg810Leu (p.R810L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg810His (p.R810H) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Trp792Gly (p.W792G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Trp792Arg (p.W792R) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Val771Met (p.V771M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.2308+1G>T ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.2308+1G>C ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.2308+1G>A ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asp770Asn (p.D770N) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Val757Met (p.V757M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.1928-2A>G ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610His (p.D610H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gly596Arg (p.G596R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu542Gln (p.E542Q) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Tyr525Ter (p.Y525*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg502Trp (p.R502W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg495Gln (p.R495Q) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly490Arg (p.G490R) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.1458-6G>T ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.1458-6G>A ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Glu441Lys (p.E441K) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.1091-1G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly347Ser (p.G347S) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Ser311Leu (p.S311L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ser311Ter (p.S311*) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.852-1G>T ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.852-1G>A ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gly279Ala (p.G279A) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Glu258Lys (p.E258K) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala216Thr (p.A216T) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gln208His (p.Q208H) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Arg177Cys (p.R177C) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg160Trp (p.R160W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ile154Thr (p.I154T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp75Asn (p.D75N) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.26-2A>G ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Gly5Arg (p.G5R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg1267His (p.R1267H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Tyr1136= (p.Y1136=) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Tyr1136Ter (p.Y1136*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp1076Gly (p.D1076G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.3190+5G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.3190+2T>G ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.3190+2T>C ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.3190+2T>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gln1061Ter (p.Q1061*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Thr1046Met (p.T1046M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu1017Lys (p.E1017K) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg970Trp (p.R970W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Thr958Ile (p.T958I) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873Leu (p.P873L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Pro873His (p.P873H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val846Asp (p.V846D) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala833Thr (p.A833T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg810Leu (p.R810L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg810His (p.R810H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Trp792Gly (p.W792G) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Trp792Arg (p.W792R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val771Met (p.V771M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.2308+1G>T ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.2308+1G>C ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 c.2308+1G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp770Asn (p.D770N) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Val757Met (p.V757M) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.1928-2A>G ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610His (p.D610H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly596Arg (p.G596R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu542Gln (p.E542Q) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Tyr525Ter (p.Y525*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg502Trp (p.R502W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg495Gln (p.R495Q) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly490Arg (p.G490R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.1458-6G>T ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.1458-6G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu441Lys (p.E441K) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.1091-1G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly347Ser (p.G347S) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ser311Leu (p.S311L) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ser311Ter (p.S311*) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.852-1G>T ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.852-1G>A ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly279Ala (p.G279A) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Glu258Lys (p.E258K) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ala216Thr (p.A216T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gln208His (p.Q208H) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg177Cys (p.R177C) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg160Trp (p.R160W) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ile154Thr (p.I154T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Asp75Asn (p.D75N) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 c.26-2A>G ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Gly5Arg (p.G5R) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Arg1254_Ala1255insGlyHisLeuCysLeuArg (p.R1254_A1255insGHLCLR)
MYBPC3 p.Tyr1100Ter (p.Y1100*)
MYBPC3 p.His831LeufsTer2 (p.H831Lfs*2)
MYBPC3 p.Glu793GlyfsTer40 (p.E793Gfs*40)
MYBPC3 p.Arg1254_Ala1255insGlyHisLeuCysLeuArg (p.R1254_A1255insGHLCLR)
MYBPC3 p.Tyr1100Ter (p.Y1100*)
MYBPC3 p.His831LeufsTer2 (p.H831Lfs*2)
MYBPC3 p.Glu793GlyfsTer40 (p.E793Gfs*40) - Associated Disease
- Cardiomyopathy, Hypertrophic, Familial
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.247448482678007
- Year of publication
- NA
Drugs