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NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) AND Associated with severe COVID-19 disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2023
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:
RCV003401207.1

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)]

NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)

Gene:
TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
HGVS:
  • NC_000012.12:g.6341779T>C
  • NG_007506.1:g.5317A>G
  • NM_001065.4:c.36A>GMANE SELECT
  • NM_001346091.2:c.-135A>G
  • NM_001346092.2:c.-542A>G
  • NP_001056.1:p.Pro12=
  • NP_001056.1:p.Pro12=
  • LRG_193t1:c.36A>G
  • LRG_193:g.5317A>G
  • LRG_193p1:p.Pro12=
  • NC_000012.11:g.6450945T>C
  • NM_001065.3:c.36A>G
  • NR_144351.2:n.298A>G
  • p.Pro12Pro
Links:
dbSNP: rs767455
NCBI 1000 Genomes Browser:
rs767455
Molecular consequence:
  • NM_001346091.2:c.-135A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001346092.2:c.-542A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_144351.2:n.298A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001065.4:c.36A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Associated with severe COVID-19 disease
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004102846HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas
no assertion criteria provided
Uncertain significance
(Jul 1, 2023)
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, SCV004102846.1

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

Last Updated: Jul 15, 2024