NM_000527.5(LDLR):c.1272C>T (p.Pro424=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741514.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1272C>T (p.Pro424=)]
NM_000527.5(LDLR):c.1272C>T (p.Pro424=)
Condition(s)
-
Homo sapiens
Homo sapiensGenome
-
Genome Links for Gene (Select 64096) (1)
Genome
-
PMC Links for Gene (Select 64096) (2)
PMC
-
protoheme IX farnesyltransferase [Paludibacter propionicigenes]
protoheme IX farnesyltransferase [Paludibacter propionicigenes]gi|503211773|ref|WP_013446434.1|Protein
-
transcription elongation factor SPT6 isoform X1 [Homo sapiens]
transcription elongation factor SPT6 isoform X1 [Homo sapiens]gi|2462557159|ref|XP_054172984.1|Protein
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Last Updated: Sep 29, 2024