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NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT AND Risk of requirement of invasive mechanical ventilation in patients with severe COVID-19

Germline classification:
Uncertain significance (1 submission)
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:
RCV002509380.1

Allele description [Variation Report for NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT]

NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT

Gene:
ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
HGVS:
  • NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NG_011648.1:g.16471_16472insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTTMANE SELECT
  • NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NM_152830.3:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NC_000017.10:g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
  • NC_000017.10:g.61565904_61565905insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
Links:
PharmGKB: 982047862; PharmGKB: 982047862PA448780; dbSNP: rs1799752
NCBI 1000 Genomes Browser:
rs1799752
Molecular consequence:
  • NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152830.3:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Risk of requirement of invasive mechanical ventilation in patients with severe COVID-19
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002818477HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significancegermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes216not providednot providednot providednot providedresearch

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV002818477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided216not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided216not providednot providednot provided

Last Updated: Jun 23, 2024