NM_000527.5(LDLR):c.2064C>T (p.Asn688=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002420681.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2064C>T (p.Asn688=)]
NM_000527.5(LDLR):c.2064C>T (p.Asn688=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
ATP-dependent DNA helicase DDX11 isoform X14 [Homo sapiens]
ATP-dependent DNA helicase DDX11 isoform X14 [Homo sapiens]gi|578822801|ref|XP_006719113.1|Protein
-
Mus musculus myocyte enhancer factor 2B, mRNA (cDNA clone MGC:54740 IMAGE:630722...
Mus musculus myocyte enhancer factor 2B, mRNA (cDNA clone MGC:54740 IMAGE:6307224), complete cdsgi|28175701|gb|BC045147.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024