NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002518480.3
Allele description [Variation Report for NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)]
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)
Condition(s)
-
Chain t, Ribosome biogenesis protein RLP7
Chain t, Ribosome biogenesis protein RLP7gi|1950842497|pdb|7BTB|tProtein
-
Med6 mediator complex subunit 6 [Mus musculus]
Med6 mediator complex subunit 6 [Mus musculus]Gene ID:69792Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024