NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002721807.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)]
NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)
Condition(s)
-
Homo sapiens high-mobility group (nonhistone chromosomal) protein isoform I-C (H...
Homo sapiens high-mobility group (nonhistone chromosomal) protein isoform I-C (HMGIC), mRNAgi|6631086|ref|NM_003483.2|Nucleotide
-
ACSBG1 [Rana temporaria]
ACSBG1 [Rana temporaria]Gene ID:120931536Gene
-
LCAT [Macaca fascicularis]
LCAT [Macaca fascicularis]Gene ID:102126888Gene
-
LOC102129056 [Macaca fascicularis]
LOC102129056 [Macaca fascicularis]Gene ID:102129056Gene
-
Trp1 Translocation protein 1 [Drosophila melanogaster]
Trp1 Translocation protein 1 [Drosophila melanogaster]Gene ID:34333Gene
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024