NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 4, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002395466.2
Allele description [Variation Report for NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)]
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024