NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 23, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000584317.4
Allele description [Variation Report for NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)]
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
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
-
Homo sapiens S100 calcium binding protein A16, mRNA (cDNA clone MGC:111357 IMAGE...
Homo sapiens S100 calcium binding protein A16, mRNA (cDNA clone MGC:111357 IMAGE:30553208), complete cdsgi|63101929|gb|BC095462.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024