NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829627.4
Allele description [Variation Report for NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)]
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)
Condition(s)
-
Homo sapiens cDNA clone IMAGE:4554266, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:4554266, containing frame-shift errorsgi|19263756|gb|BC025292.1|Nucleotide
-
Ugt316A1 [Hermetia illucens]
Ugt316A1 [Hermetia illucens]Gene ID:119648758Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024