NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000629082.9
Allele description [Variation Report for NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)]
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
ubiquitin-conjugating enzyme E2 variant 3 isoform d [Homo sapiens]
ubiquitin-conjugating enzyme E2 variant 3 isoform d [Homo sapiens]gi|386869251|ref|NP_001248312.1|Protein
-
Chain A, LYSOZYME
Chain A, LYSOZYMEgi|157834708|pdb|2BQG|AProtein
-
3-ketoacyl-CoA thiolase [Pseudomonas aeruginosa PA1R]
3-ketoacyl-CoA thiolase [Pseudomonas aeruginosa PA1R]gi|557714993|gnl|DMTMMU|PA1R_gp5314 HA27019.1|Protein
-
Ildr1 protein [Mus musculus]
Ildr1 protein [Mus musculus]gi|34784632|gb|AAH57644.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024