NM_000041.4(APOE):c.488G>A (p.Arg163His) AND Familial type 3 hyperlipoproteinemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 1990
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019449.30
Allele description [Variation Report for NM_000041.4(APOE):c.488G>A (p.Arg163His)]
NM_000041.4(APOE):c.488G>A (p.Arg163His)
Condition(s)
- Name:
- Familial type 3 hyperlipoproteinemia
- Synonyms:
- Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Dysbetalipoproteinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018473; MedGen: C0020479; OMIM: 617347
-
SAMN16422814 (1)
BioSample
-
N. lecontei adult female genitalia mRNA-seq
N. lecontei adult female genitalia mRNA-seqbiosample
-
N. lecontei early instar male head mRNA-seq
N. lecontei early instar male head mRNA-seqbiosample
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SAMN16422801 (1)
BioSample
-
Homo sapiens glutathione S-transferase alpha 3 (GSTA3), transcript variant 1, mR...
Homo sapiens glutathione S-transferase alpha 3 (GSTA3), transcript variant 1, mRNAgi|1519314833|ref|NM_000847.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024