NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001050137.8
Allele description [Variation Report for NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)]
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
Condition(s)
-
Y' element ATP-dependent helicase [Saccharomyces cerevisiae S288C]
Y' element ATP-dependent helicase [Saccharomyces cerevisiae S288C]gi|6325462|ref|NP_015530.1|Protein
-
Festuca mekiste (3)
PMC
-
T Shin (0)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024