Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
SLC3A2 p.Asp277Asn (p.D277N)
(
ENST00000536981.6,
ENST00000681232.1,
ENST00000680729.1,
ENST00000377889.6,
ENST00000681657.1,
ENST00000377890.6,
ENST00000535296.5,
ENST00000377891.6,
ENST00000338663.12 )
MYH7 p.Leu908Val (p.L908V) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg719Gln (p.R719Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe513Cys (p.F513C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly256Glu (p.G256E) ( ENST00000355349.4, ENST00000713769.1, ENST00000713768.1 )
TPM1 p.Asp217Asn (p.D217N) ( ENST00000559556.5, ENST00000559397.6, ENST00000560970.6, ENST00000561266.6, ENST00000357980.9, ENST00000358278.7, ENST00000317516.12, ENST00000560615.6, ENST00000334895.10, ENST00000560959.5, ENST00000403994.9, ENST00000558910.3, ENST00000559281.6, ENST00000288398.10, ENST00000404484.9, ENST00000267996.11, ENST00000651704.1, ENST00000714013.1, ENST00000651577.1, ENST00000714014.1, ENST00000714017.1 )
SLC3A2 p.Asp277Asn (p.D277N) ( ENST00000338663.12, ENST00000377889.6, ENST00000377890.6, ENST00000377891.6, ENST00000535296.5, ENST00000536981.6, ENST00000680729.1, ENST00000681232.1, ENST00000681657.1 )
MYH7 p.Leu908Val (p.L908V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg719Gln (p.R719Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe513Cys (p.F513C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Gly256Glu (p.G256E) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
TPM1 p.Asp217Asn (p.D217N) ( ENST00000267996.11, ENST00000288398.10, ENST00000317516.12, ENST00000334895.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000404484.9, ENST00000558910.3, ENST00000559281.6, ENST00000559397.6, ENST00000559556.5, ENST00000560615.6, ENST00000560959.5, ENST00000560970.6, ENST00000561266.6, ENST00000651577.1, ENST00000651704.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as benign defects, associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
- Pubmed
- 12473556
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0544602604195234
- Year of publication
- 2002
Drugs