NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002416263.2
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=)]
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
caspase recruitment domain-containing protein 11 [Homo sapiens]
caspase recruitment domain-containing protein 11 [Homo sapiens]gi|157743265|ref|NP_115791.3|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024