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
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Homo sapiens transcription elongation factor A like 2 (TCEAL2), RefSeqGene on ch...
Homo sapiens transcription elongation factor A like 2 (TCEAL2), RefSeqGene on chromosome Xgi|257196268|ref|NG_012818.1|Nucleotide
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Cupriavidus pauculus strain FDAARGOS_664 chromosome 1, complete sequence
Cupriavidus pauculus strain FDAARGOS_664 chromosome 1, complete sequencegi|1750976780|gb|CP044065.1|Nucleotide
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Miliusa sclerocarpa (8)
Nucleotide
-
Aechmea decurva (0)
Protein Family Models
-
Chain A, SufA protein
Chain A, SufA proteingi|85544500|pdb|2D2A|AProtein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024