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NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) AND Susceptibility to severe coronavirus disease (COVID-19)

Germline classification:
other (1 submission)
Last evaluated:
May 13, 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:
RCV002466248.9

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)]

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
Other names:
E264V; PI*S; SERPINA1, GLU264VAL ON M1V; S
HGVS:
  • NC_000014.9:g.94380925T>A
  • NG_008290.1:g.14768A>T
  • NM_000295.5:c.863A>TMANE SELECT
  • NM_001002235.3:c.863A>T
  • NM_001002236.3:c.863A>T
  • NM_001127700.2:c.863A>T
  • NM_001127701.2:c.863A>T
  • NM_001127702.2:c.863A>T
  • NM_001127703.2:c.863A>T
  • NM_001127704.2:c.863A>T
  • NM_001127705.2:c.863A>T
  • NM_001127706.2:c.863A>T
  • NM_001127707.2:c.863A>T
  • NP_000286.3:p.Glu288Val
  • NP_000286.3:p.Glu288Val
  • NP_001002235.1:p.Glu288Val
  • NP_001002236.1:p.Glu288Val
  • NP_001121172.1:p.Glu288Val
  • NP_001121173.1:p.Glu288Val
  • NP_001121173.1:p.Glu288Val
  • NP_001121174.1:p.Glu288Val
  • NP_001121175.1:p.Glu288Val
  • NP_001121176.1:p.Glu288Val
  • NP_001121177.1:p.Glu288Val
  • NP_001121178.1:p.Glu288Val
  • NP_001121179.1:p.Glu288Val
  • LRG_575t1:c.863A>T
  • LRG_575:g.14768A>T
  • LRG_575p1:p.Glu288Val
  • NC_000014.8:g.94847262T>A
  • NM_000295.4:c.863A>T
  • NM_000295.5:c.863A>T
  • NM_001127701.1:c.863A>T
  • P01009:p.Glu288Val
Protein change:
E288V; Glu264Val
Links:
Genetic Testing Registry (GTR): GTR000006840; UniProtKB: P01009#VAR_007000; OMIM: 107400.0013; dbSNP: rs17580
NCBI 1000 Genomes Browser:
rs17580
Molecular consequence:
  • NM_000295.5:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Susceptibility to severe coronavirus disease (COVID-19)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002546357HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
other
(May 13, 2022) 		germlineresearch

Help

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, SCV002546357.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Susceptibility to severe coronavirus disease (COVID-19)

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

Last Updated: Oct 26, 2024