NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186222.4
Allele description [Variation Report for NM_170707.4(LMNA):c.749C>T (p.Ala250Val)]
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens isolate CHM13 chromosome 20, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 20, alternate assembly T2T-CHM13v2.0gi|2194972764|gnl|ASM:GCF_009914825 ef|NC_060944.1||gpp|GPC_000012759.1||gnl|NCBI_GENOMES|119580Nucleotide
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Last Updated: Sep 29, 2024