NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) AND Cardiovascular phenotype
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002392739.2
Allele description [Variation Report for NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)]
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Taxonomy Links for Protein (Select 944376768) (1)
Taxonomy
-
Homo sapiens endothelial differentiation-related factor 1, mRNA (cDNA clone MGC:...
Homo sapiens endothelial differentiation-related factor 1, mRNA (cDNA clone MGC:9058 IMAGE:3903539), complete cdsgi|15930117|gb|BC015500.1|Nucleotide
-
Homo sapiens endothelial differentiation related factor 1 (EDF1), transcript var...
Homo sapiens endothelial differentiation related factor 1 (EDF1), transcript variant 4, mRNAgi|1675034374|ref|NM_001281298.2|Nucleotide
-
protein WWC2 [Pelodiscus sinensis]
protein WWC2 [Pelodiscus sinensis]gi|558195210|ref|XP_006130219.1|Protein
-
Neisseria meningitidis strain N199_13 NODE_145_length_544_cov_95.8921_ID_289, wh...
Neisseria meningitidis strain N199_13 NODE_145_length_544_cov_95.8921_ID_289, whole genome shotgun sequencegi|1681757769|gb|SDKR01000145.1||gn :SDKR01|NODE_145_length_544_cov_95.8921_ID_289Nucleotide
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Last Updated: May 7, 2024