NM_000527.5(LDLR):c.449C>A (p.Pro150His) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582099.1
Allele description [Variation Report for NM_000527.5(LDLR):c.449C>A (p.Pro150His)]
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
Condition(s)
-
PREDICTED: methylmalonic aciduria and homocystinuria type D protein, mitochondri...
PREDICTED: methylmalonic aciduria and homocystinuria type D protein, mitochondrial [Fulmarus glacialis]gi|697013881|ref|XP_009581317.1|Protein
-
SRX18433953 (1)
SRA
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Last Updated: Feb 20, 2024