NM_000527.5(LDLR):c.601G>C (p.Glu201Gln) AND Familial hypercholesterolemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002711917.3
Allele description [Variation Report for NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)]
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
Condition(s)
-
Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 1, m...
Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 1, mRNAgi|34147474|ref|NM_052946.2|Nucleotide
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LOC120948138 [Anopheles coluzzii]
LOC120948138 [Anopheles coluzzii]Gene ID:120948138Gene
-
Il17f interleukin 17F [Mus musculus]
Il17f interleukin 17F [Mus musculus]Gene ID:257630Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024