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1 records shown · first 60Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
PMID 27081511 | PMCID PMC4785512 | DOI 10.1038/hgv.2014.21 · Human genome variation · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs5930 | “We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients.” | 0.90 | hgvs_regex_v1 |
| gene | LDLR | “Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1332dup | “Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.” | 0.95 | hgvs_regex_v1 |