NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) AND not specified
- Germline classification:
- Benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001698956.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)]
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 2, 2024