NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000775620.3
Allele description [Variation Report for NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp)]
NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp)
Condition(s)
-
Saccharomyces cerevisiae S288C Gld1p (GLD1), partial mRNA
Saccharomyces cerevisiae S288C Gld1p (GLD1), partial mRNAgi|296148747|ref|NM_001184206.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024