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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:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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)

Gene:
APOE:apolipoprotein E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000041.4(APOE):c.488G>A (p.Arg163His)
Other names:
R145H
HGVS:
  • NC_000019.10:g.44908784G>A
  • NG_007084.2:g.8003G>A
  • NM_000041.4:c.488G>AMANE SELECT
  • NM_001302688.2:c.566G>A
  • NM_001302689.2:c.488G>A
  • NM_001302690.2:c.488G>A
  • NM_001302691.2:c.488G>A
  • NP_000032.1:p.Arg163His
  • NP_001289617.1:p.Arg189His
  • NP_001289618.1:p.Arg163His
  • NP_001289619.1:p.Arg163His
  • NP_001289620.1:p.Arg163His
  • NC_000019.9:g.45412041G>A
  • P02649:p.Arg163His
Protein change:
R163H; ARG145HIS
Links:
UniProtKB: P02649#VAR_000660; OMIM: 107741.0018; dbSNP: rs121918397
NCBI 1000 Genomes Browser:
rs121918397
Molecular consequence:
  • NM_000041.4:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302688.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302689.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302690.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302691.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039739OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1990) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).

Suehiro T, Yoshida K, Yamano T, Ohno F.

Jpn J Med. 1990 Nov-Dec;29(6):587-94.

PubMed [citation]
PMID:
2101409

Details of each submission

From OMIM, SCV000039739.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This arg145-to-his amino acid change in the APOE gene was identified in a Japanese subject with familial dysbetalipoproteinemia (617347) by Suehiro et al. (1990). The variant was designated E3(-) because it is slightly more acidic than apolipoprotein E3 (107741.0015). This variant was designated APOE3(-)-Kochi.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024