NM_001018005.2(TPM1):c.144G>A (p.Lys48=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001411439.9
Allele description [Variation Report for NM_001018005.2(TPM1):c.144G>A (p.Lys48=)]
NM_001018005.2(TPM1):c.144G>A (p.Lys48=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
mesoderm-specific transcript homolog protein isoform c [Homo sapiens]
mesoderm-specific transcript homolog protein isoform c [Homo sapiens]gi|359806886|ref|NP_001240829.1|Protein
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Homo sapiens MAGUK p55 scaffold protein 3 (MPP3), transcript variant 6, non-codi...
Homo sapiens MAGUK p55 scaffold protein 3 (MPP3), transcript variant 6, non-coding RNAgi|1890351119|ref|NR_148343.2|Nucleotide
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Last Updated: Sep 29, 2024