NM_000527.5(LDLR):c.807C>T (p.Gly269=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001190106.4
Allele description [Variation Report for NM_000527.5(LDLR):c.807C>T (p.Gly269=)]
NM_000527.5(LDLR):c.807C>T (p.Gly269=)
Condition(s)
-
Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2...
Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2) deficiency in a C. elegans mutant (mtx-2 KO, (gk444)) vs Wild-type worms (N2 Bristol)Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2) deficiency in a C. elegans mutant (mtx-2 KO, (gk444)) vs Wild-type worms (N2 Bristol)BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024