NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001825537.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)]
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)
Condition(s)
-
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate EMedGen
-
C4302667[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024