NM_001082486.1(ACD):c.134T>C (p.Val45Ala) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002387926.9
Allele description [Variation Report for NM_001082486.1(ACD):c.134T>C (p.Val45Ala)]
NM_001082486.1(ACD):c.134T>C (p.Val45Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jun 9, 2024