NM_000527.5(LDLR):c.2148G>A (p.Glu716=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178135.5
Allele description [Variation Report for NM_000527.5(LDLR):c.2148G>A (p.Glu716=)]
NM_000527.5(LDLR):c.2148G>A (p.Glu716=)
Condition(s)
-
neurolysin, mitochondrial precursor [Mus musculus]
neurolysin, mitochondrial precursor [Mus musculus]gi|28077051|ref|NP_083723.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024