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
-
Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase...
Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit (HADHA), mRNAgi|37059733|ref|NM_000182.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024