NM_174936.4(PCSK9):c.6C>T (p.Gly2=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 20, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178458.2
Allele description [Variation Report for NM_174936.4(PCSK9):c.6C>T (p.Gly2=)]
NM_174936.4(PCSK9):c.6C>T (p.Gly2=)
Condition(s)
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Homo sapiens Rho related BTB domain containing 1 (RHOBTB1), transcript variant 4...
Homo sapiens Rho related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNAgi|1676318327|ref|NM_001242359.2|Nucleotide
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Homologene neighbors for GEO Profiles (Select 127400287) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 127399802) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024