NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) AND Homozygous familial hypercholesterolemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004017508.1
Allele description [Variation Report for NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)]
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
Condition(s)
- Name:
- Homozygous familial hypercholesterolemia
- Synonyms:
- Familial hypercholesterolemia - homozygous
- Identifiers:
- MONDO: MONDO:0018328; MedGen: C0342881
-
PREDICTED: Oncorhynchus gorbuscha dnaJ homolog subfamily B member 6-like (LOC124...
PREDICTED: Oncorhynchus gorbuscha dnaJ homolog subfamily B member 6-like (LOC124009913), mRNAgi|2186732840|ref|XM_046322165.1|Nucleotide
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Last Updated: Sep 29, 2024