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NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) AND APOLIPOPROTEIN A-I (MUNSTER3B)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1989
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:
RCV000019504.27

Allele description [Variation Report for NM_000039.3(APOA1):c.83C>G (p.Pro28Arg)]

NM_000039.3(APOA1):c.83C>G (p.Pro28Arg)

Genes:
APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg)
Other names:
P4R
HGVS:
  • NC_000011.10:g.116837118G>C
  • NG_012021.1:g.5505C>G
  • NM_000039.3:c.83C>GMANE SELECT
  • NM_001318017.2:c.83C>G
  • NM_001318018.2:c.83C>G
  • NM_001318021.1:c.-240-5C>G
  • NM_001425090.1:c.83C>G
  • NM_001425092.1:c.-245C>G
  • NM_001425093.1:c.83C>G
  • NP_000030.1:p.Pro28Arg
  • NP_000030.1:p.Pro28Arg
  • NP_001304946.1:p.Pro28Arg
  • NP_001304947.1:p.Pro28Arg
  • NP_001412019.1:p.Pro28Arg
  • NP_001412022.1:p.Pro28Arg
  • LRG_767t1:c.83C>G
  • LRG_767:g.5505C>G
  • LRG_767p1:p.Pro28Arg
  • NC_000011.9:g.116707834G>C
  • NM_000039.1:c.83C>G
  • P02647:p.Pro28Arg
Protein change:
P28R; PRO4ARG
Links:
UniProtKB: P02647#VAR_000607; OMIM: 107680.0008; dbSNP: rs121912721
NCBI 1000 Genomes Browser:
rs121912721
Molecular consequence:
  • NM_001318021.1:c.-240-5C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000039.3:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318017.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318018.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425090.1:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425093.1:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
APOLIPOPROTEIN A-I (MUNSTER3B)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039801OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1989) 		germlineliterature only

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

Breslow, J. L., Karathanasis, S., Norum, R., Zannis, V. I. APO A-I deficiency and premature atherosclerosis associated with an insertion in the APO A-I gene. (Abstract) Pediat. Res. 17: 208A-only, 1983.

Help

Summary from all submissions

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

Citations

PubMed

Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

von Eckardstein A, Funke H, Henke A, Altland K, Benninghoven A, Assmann G.

J Clin Invest. 1989 Dec;84(6):1722-30.

PubMed [citation]
PMID:
2512329
PMCID:
PMC304048

Details of each submission

From OMIM, SCV000039801.2

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

Description

See 107680.0007 and von Eckardstein et al. (1989).

Breslow (1988) noted that the P4R mutation is designated apoA-I(Munster3B).

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

Last Updated: Apr 20, 2024