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
-
PREDICTED: Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), transcript ...
PREDICTED: Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), transcript variant X5, mRNAgi|2217278093|ref|XM_047425556.1|Nucleotide
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Hortaea werneckii voucher LMSA2.08.029 26S ribosomal RNA gene, partial sequence
Hortaea werneckii voucher LMSA2.08.029 26S ribosomal RNA gene, partial sequencegi|261265331|gb|GU002279.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024