NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) AND not specified
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001800473.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)]
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jan 19, 2025