NM_001103.4(ACTN2):c.2658C>T (p.Ser886=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000242036.3
Allele description [Variation Report for NM_001103.4(ACTN2):c.2658C>T (p.Ser886=)]
NM_001103.4(ACTN2):c.2658C>T (p.Ser886=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
MULTISPECIES: MnhB domain-containing protein [Petrotoga]
MULTISPECIES: MnhB domain-containing protein [Petrotoga]gi|501164161|ref|WP_012208416.1|Protein
-
Homo sapiens mRNA; cDNA DKFZp686D126 (from clone DKFZp686D126)
Homo sapiens mRNA; cDNA DKFZp686D126 (from clone DKFZp686D126)gi|31873635|emb|BX537564.1|Nucleotide
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Last Updated: Sep 29, 2024