NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Jul 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000237956.10
Allele description [Variation Report for NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)]
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
-
Papiliotrema laurentii
Papiliotrema laurentiiPapiliotrema laurentii Raw sequence readsBioProject
-
4312537[uid] (1)
PMC
-
Crepidotus versutus (1)
Taxonomy
-
66798[uid] AND (alive[prop]) (0)
Gene
-
histidine tRNA synthetase [Salmonella enterica subsp. enterica serovar Typhimuri...
histidine tRNA synthetase [Salmonella enterica subsp. enterica serovar Typhimurium str. LT2]gi|16765842|ref|NP_461457.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024