NM_000527.5(LDLR):c.1401C>T (p.Thr467=) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004002955.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1401C>T (p.Thr467=)]
NM_000527.5(LDLR):c.1401C>T (p.Thr467=)
Condition(s)
- Name:
- Hypercholesterolemia, familial, 1
- Synonyms:
- LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890
-
Homo sapiens ubiquitin conjugating enzyme E2 U (UBE2U), transcript variant 2, mR...
Homo sapiens ubiquitin conjugating enzyme E2 U (UBE2U), transcript variant 2, mRNAgi|1677502241|ref|NM_001366233.2|Nucleotide
-
alanine--glyoxylate aminotransferase isoform 1 precursor [Mus musculus]
alanine--glyoxylate aminotransferase isoform 1 precursor [Mus musculus]gi|111038130|ref|NP_057911.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024