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NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) AND Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2021
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:
RCV001807002.9

Allele description [Variation Report for NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)]

NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)

Gene:
SERPINE1:serpin family E member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
Other names:
A15T
HGVS:
  • NC_000007.14:g.101128436G>A
  • NG_013213.1:g.6339G>A
  • NM_000602.5:c.43G>AMANE SELECT
  • NM_001386456.1:c.-32-178G>A
  • NM_001386457.1:c.43G>A
  • NM_001386458.1:c.43G>A
  • NM_001386459.1:c.43G>A
  • NM_001386460.1:c.43G>A
  • NM_001386461.1:c.43G>A
  • NM_001386462.1:c.-69-90G>A
  • NM_001386463.1:c.37G>A
  • NM_001386464.1:c.43G>A
  • NM_001386465.1:c.43G>A
  • NM_001386466.1:c.43G>A
  • NP_000593.1:p.Ala15Thr
  • NP_001373386.1:p.Ala15Thr
  • NP_001373387.1:p.Ala15Thr
  • NP_001373388.1:p.Ala15Thr
  • NP_001373389.1:p.Ala15Thr
  • NP_001373390.1:p.Ala15Thr
  • NP_001373392.1:p.Ala13Thr
  • NP_001373393.1:p.Ala15Thr
  • NP_001373394.1:p.Ala15Thr
  • NP_001373395.1:p.Ala15Thr
  • LRG_597t1:c.43G>A
  • LRG_597:g.6339G>A
  • LRG_597p1:p.Ala15Thr
  • NC_000007.13:g.100771717G>A
  • NM_000602.4:c.43G>A
  • P05121:p.Ala15Thr
Protein change:
A13T; ALA15THR
Links:
UniProtKB: P05121#VAR_007099; OMIM: 173360.0003; dbSNP: rs6092
NCBI 1000 Genomes Browser:
rs6092
Molecular consequence:
  • NM_001386456.1:c.-32-178G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386462.1:c.-69-90G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000602.5:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386457.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386458.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386459.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386460.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386461.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386463.1:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386464.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386465.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386466.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001750079HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significance
(Jun 29, 2021) 		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, SCV001750079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Differences in coagulation-related proteins according to the genotype of patients with severe COVID-19

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

Last Updated: Nov 3, 2024