NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002455408.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg)]
NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Mixture/Component Compounds for PubChem Compound (Select 15967287... (2)
Mixture/Component Compounds for PubChem Compound (Select 159672878)SearchPubChem Compound
-
Protein Links for Gene (Select 50489) (11)
Protein
-
PREDICTED: Homo sapiens MIB E3 ubiquitin protein ligase 2 (MIB2), transcript var...
PREDICTED: Homo sapiens MIB E3 ubiquitin protein ligase 2 (MIB2), transcript variant X22, mRNAgi|2217264227|ref|XM_047446745.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024