NM_000527.5(LDLR):c.780C>T (p.Asp260=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003824497.2
Allele description [Variation Report for NM_000527.5(LDLR):c.780C>T (p.Asp260=)]
NM_000527.5(LDLR):c.780C>T (p.Asp260=)
Condition(s)
-
dna ligase [Nannochloropsis gaditana]
dna ligase [Nannochloropsis gaditana]gi|585107050|gb|EWM25299.1||gnl|WGS |Naga_100593g3.5929Protein
-
Glucose-induced degradation 4 [Chlorella sorokiniana]
Glucose-induced degradation 4 [Chlorella sorokiniana]gi|1359809348|gb|PRW45017.1||gnl|WG G|C2E21_6156Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024