NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) AND Familial hypercholesterolemia
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001183446.6
Allele description [Variation Report for NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)]
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
Condition(s)
-
MELTF [Lynx rufus]
MELTF [Lynx rufus]Gene ID:124527097Gene
-
Chromosome neighbors for GEO Profiles (Select 56858260) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024