Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Gln789ArgfsTer25 (p.Q789Rfs*25)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Asn676LysfsTer8 (p.N676Kfs*8) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gln789ArgfsTer25 (p.Q789Rfs*25) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asn676LysfsTer8 (p.N676Kfs*8) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Asp896Asn (p.D896N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu725Pro (p.L725P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg723His (p.R723H) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 c.2163-1G>T ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 c.2163-1G>A ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Met684Arg (p.M684R) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Met684Thr (p.M684T) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 c.1956+2T>G ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.His651Arg (p.H651R) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Glu525Lys (p.E525K) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Phe510Leu (p.F510L) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Val431Met (p.V431M) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala423Thr (p.A423T) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ser384Tyr (p.S384Y) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Lys367Asn (p.K367N) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.His358Leu (p.H358L) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 c.640-1G>A ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Asp896Asn (p.D896N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu725Pro (p.L725P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg723His (p.R723H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.2163-1G>T ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.2163-1G>A ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Met684Arg (p.M684R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Met684Thr (p.M684T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.1956+2T>G ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.His651Arg (p.H651R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu525Lys (p.E525K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe510Leu (p.F510L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val431Met (p.V431M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala423Thr (p.A423T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ser384Tyr (p.S384Y) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Lys367Asn (p.K367N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.His358Leu (p.H358L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.640-1G>A ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Familial cardiomyopathy
- 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