NM_174936.4(PCSK9):c.1847C>T (p.Pro616Leu) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001182031.5
Allele description [Variation Report for NM_174936.4(PCSK9):c.1847C>T (p.Pro616Leu)]
NM_174936.4(PCSK9):c.1847C>T (p.Pro616Leu)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 132125902) (20)
GEO Profiles
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SRPIN803 small molecule inhibitor of SRPK1 effect on retinal pigment epithelial ...
SRPIN803 small molecule inhibitor of SRPK1 effect on retinal pigment epithelial cell lineAccession: GDS5913GEO DataSets
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Related DataSets for GEO Profiles (Select 132132992) (1)
GEO DataSets
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Related DataSets for GEO Profiles (Select 132119187) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024