NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001390889.5
Allele description [Variation Report for NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs)]
NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs)
Condition(s)
-
SGCG [Opisthocomus hoazin]
SGCG [Opisthocomus hoazin]Gene ID:104337299Gene
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Last Updated: Sep 29, 2024