NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002025201.4
Allele description [Variation Report for NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg)]
NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg)
Condition(s)
-
Lateral Sinus Thrombosis
Lateral Sinus ThrombosisFormation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibioti...<br/>Year introduced: 2000MeSH
-
D020227 (1)
MeSH
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Last Updated: Sep 29, 2024