NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003149921.3
Allele description [Variation Report for NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)]
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "SM... (1)
"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "SMARCA2"[gene]SearchClinVar
-
Taxonomy Links for Protein (Select 1479550917) (1)
Taxonomy
-
Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0gi|2194973393|gnl|ASM:GCF_009914825 ef|NC_060935.1||gpp|GPC_000012750.1||gnl|NCBI_GENOMES|119571Nucleotide
-
Chromosome neighbors for GEO Profiles (Select 71620408) (20)
GEO Profiles
-
RNA binding protein fox-1 homolog 1 isoform 34 [Homo sapiens]
RNA binding protein fox-1 homolog 1 isoform 34 [Homo sapiens]gi|2419854192|ref|NP_001402841.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024