NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001977264.4
Allele description [Variation Report for NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys)]
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Mus musculus RIKEN cDNA 1110058L19 gene (1110058L19Rik), mRNA
Mus musculus RIKEN cDNA 1110058L19 gene (1110058L19Rik), mRNAgi|13385989|ref|NM_026503.1|Nucleotide
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Last Updated: Sep 29, 2024