NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000791370.6
-
Miliusa sclerocarpa (0)
OMIM
-
Aechmea decurva (0)
Protein Family Models
-
Chain A, SufA protein
Chain A, SufA proteingi|85544500|pdb|2D2A|AProtein
-
Aechmea sodiroi (0)
OMIM
-
Cupriavidus pauculus strain FDAARGOS_664 plasmid unnamed1, complete sequence
Cupriavidus pauculus strain FDAARGOS_664 plasmid unnamed1, complete sequencegi|1752243709|ref|NZ_CP044066.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024