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)
-
Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 6, ...
Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 6, mRNAgi|1773094158|ref|NM_001375899.1|Nucleotide
-
Mus musculus ATP-binding cassette, sub-family member 2 (Abcc2), mRNA
Mus musculus ATP-binding cassette, sub-family member 2 (Abcc2), mRNAgi|116063565|ref|NM_013806.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024