NM_000527.5(LDLR):c.1056C>T (p.Cys352=) AND Familial hypercholesterolemia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001082978.8
Allele description [Variation Report for NM_000527.5(LDLR):c.1056C>T (p.Cys352=)]
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
Condition(s)
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Homo sapiens chromosome 3, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 3, GRCh38.p14 Primary Assemblygi|568815595|gnl|ASM:GCF_000001305| |NC_000003.12||gpp|GPC_000001295.1||gnl|NCBI_GENOMES|3Nucleotide
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Mixture/Component Compounds for PubChem Compound (Select 12973474... (3)
Mixture/Component Compounds for PubChem Compound (Select 129734740)SearchPubChem Compound
-
Profile neighbors for GEO Profiles (Select 87924987) (200)
GEO Profiles
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Mixture/Component Compounds for PubChem Compound (Select 4172015) (3)
PubChem Compound
-
C16orf87 chromosome 16 open reading frame 87 [Homo sapiens]
C16orf87 chromosome 16 open reading frame 87 [Homo sapiens]Gene ID:388272Gene
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024