NM_000527.5(LDLR):c.2389+19C>T AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003740721.1
Allele description [Variation Report for NM_000527.5(LDLR):c.2389+19C>T]
NM_000527.5(LDLR):c.2389+19C>T
Condition(s)
-
BioAssay, by Gene target for Gene (Select 1993) (12)
PubChem BioAssay
-
PubChem Compound Links for Gene (Select 1993) (25)
PubChem Compound
-
Gene Links for Nucleotide (Select 1519243559) (1)
Gene
-
SLC39A14 solute carrier family 39 member 14 [Homo sapiens]
SLC39A14 solute carrier family 39 member 14 [Homo sapiens]Gene ID:23516Gene
-
Protein Links for Gene (Select 1993) (87)
Protein
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Last Updated: Feb 28, 2024