NM_000527.5(LDLR):c.543G>T (p.Pro181=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001184966.8
Allele description [Variation Report for NM_000527.5(LDLR):c.543G>T (p.Pro181=)]
NM_000527.5(LDLR):c.543G>T (p.Pro181=)
Condition(s)
-
CWR63_RS05260 [Bordetella parapertussis]
CWR63_RS05260 [Bordetella parapertussis]Gene ID:69420413Gene
-
ahcY [Bordetella parapertussis]
ahcY [Bordetella parapertussis]Gene ID:69419579Gene
-
Gpc4 glypican 4 [Mus musculus]
Gpc4 glypican 4 [Mus musculus]Gene ID:14735Gene
-
Acromitus flagellatus (82)
Nucleotide
-
Oreopanax herzogii (0)
BioSample
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See more...Assertion and evidence details
Last Updated: May 7, 2024