NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002379672.2
Allele description [Variation Report for NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)]
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Oct 8, 2024