NM_001385012.1(NBEA):c.4448G>C (p.Cys1483Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002779507.2
Allele description [Variation Report for NM_001385012.1(NBEA):c.4448G>C (p.Cys1483Ser)]
NM_001385012.1(NBEA):c.4448G>C (p.Cys1483Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024