NM_000258.3(MYL3):c.162C>T (p.Phe54=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002810093.3
Allele description [Variation Report for NM_000258.3(MYL3):c.162C>T (p.Phe54=)]
NM_000258.3(MYL3):c.162C>T (p.Phe54=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homo sapiens mitochondrial ribosomal protein L36, mRNA (cDNA clone MGC:104245 IM...
Homo sapiens mitochondrial ribosomal protein L36, mRNA (cDNA clone MGC:104245 IMAGE:6738291), complete cdsgi|74356459|gb|BC104652.1|Nucleotide
-
FUT10 fucosyltransferase 10 [Canis lupus familiaris]
FUT10 fucosyltransferase 10 [Canis lupus familiaris]Gene ID:503548Gene
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Last Updated: Sep 29, 2024