NM_000527.5(LDLR):c.1043C>T (p.Ala348Val) AND Hypercholesterolemia, familial, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001564009.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1043C>T (p.Ala348Val)]
NM_000527.5(LDLR):c.1043C>T (p.Ala348Val)
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 unk like zinc finger (UNKL), transcript variant 5, mRNA
Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNAgi|1635577158|ref|NM_001276414.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023