NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000774072.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala)]
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala)
Condition(s)
-
ZXDA zinc finger X-linked duplicated A [Homo sapiens]
ZXDA zinc finger X-linked duplicated A [Homo sapiens]Gene ID:7789Gene
-
7789[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 1, 2024