NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001384763.4
Allele description [Variation Report for NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)]
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
Condition(s)
-
Related DataSets for GEO Profiles (Select 79192064) (1)
GEO DataSets
-
Recurrent and non-recurrent prostate cancer primary tumors
Recurrent and non-recurrent prostate cancer primary tumorsAccession: GDS4109GEO DataSets
-
Nucleotide Links for Protein (Select 2462518506) (2)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024