NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000590088.13
Allele description [Variation Report for NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)]
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
Condition(s)
-
Geosiphon pyriformis strain:uo1
Geosiphon pyriformis strain:uo1Geosiphon pyriformis strain:uo1 Genome sequencing and assemblyBioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024