NM_000527.5(LDLR):c.1122C>T (p.Gly374=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001410068.6
Allele description [Variation Report for NM_000527.5(LDLR):c.1122C>T (p.Gly374=)]
NM_000527.5(LDLR):c.1122C>T (p.Gly374=)
Condition(s)
-
B3GNTL1 [Sturnira hondurensis]
B3GNTL1 [Sturnira hondurensis]Gene ID:118999219Gene
-
Gene Links for GEO Profiles (Select 74250311) (1)
Gene
-
CCL28 C-C motif chemokine ligand 28 [Homo sapiens]
CCL28 C-C motif chemokine ligand 28 [Homo sapiens]Gene ID:56477Gene
-
NIM1K NIM1 serine/threonine protein kinase [Homo sapiens]
NIM1K NIM1 serine/threonine protein kinase [Homo sapiens]Gene ID:167359Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024