NM_033028.5(BBS4):c.443T>A (p.Leu148Gln) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004071859.1
Allele description [Variation Report for NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)]
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 8, 2024