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NM_001289125.3(IFNAR2):c.541-50A>G AND Mortality risk in patients with severe coronavirus disease (COVID-19)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 2022
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:
RCV002331850.1

Allele description [Variation Report for NM_001289125.3(IFNAR2):c.541-50A>G]

NM_001289125.3(IFNAR2):c.541-50A>G

Genes:
IFNAR2-IL10RB:IFNAR2-IL10RB readthrough [Gene]
IFNAR2:interferon alpha and beta receptor subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_001289125.3(IFNAR2):c.541-50A>G
HGVS:
  • NC_000021.9:g.33252612A>G
  • NG_016003.2:g.27687A>G
  • NM_000874.5:c.541-50A>G
  • NM_001289125.3:c.541-50A>GMANE SELECT
  • NM_001289126.2:c.541-50A>G
  • NM_001289128.2:c.541-50A>G
  • NM_001385054.1:c.541-50A>G
  • NM_001385055.1:c.541-50A>G
  • NM_207584.3:c.541-50A>G
  • NM_207585.3:c.541-50A>G
  • NC_000021.8:g.34624917A>G
Molecular consequence:
  • NM_000874.5:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289125.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289126.2:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289128.2:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385054.1:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385055.1:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207584.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207585.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mortality risk in patients with severe coronavirus disease (COVID-19)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515912HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significance
(May 6, 2022)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV002515912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024