NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu)

Variation ID: Help
4467
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu)

Allele ID:
19506
Variant type:
single nucleotide variant
Cytogenetic location:
11q24
Genomic location:
  • Chr11: 126292948 (on Assembly GRCh38)
  • Chr11: 126162843 (on Assembly GRCh37)
Protein change:
S180L
HGVS:
  • NG_011523.1:g.14862C>T
  • NM_001039661.1:c.539C>T
  • NP_001034750.1:p.Ser180Leu
  • NC_000011.10:g.126292948C>T (GRCh38)
  • NC_000011.9:g.126162843C>T (GRCh37)
  • P58753:p.Ser180Leu
Links:
NCBI 1000 Genomes Browser:
rs8177374
Molecular consequence:
NM_001039661.1:c.539C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.11509 (T)
  • GMAF 0.08590 (T)
  • ExAC 0.12534 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
protective
(Mar 1, 2008)
no assertion criteria providedliterature only
  • Invasive pneumococcal disease, protection against[MedGen]
germlineOMIMSCV000024897.1
protective
(May 18, 2015)
no assertion criteria providedliterature only
  • Malaria, resistance to[MedGen]
germlineOMIMSCV000024899.1
protective
(Mar 1, 2008)
no assertion criteria providedliterature only
  • Mycobacterium tuberculosis, protection against[MedGen]
germlineOMIMSCV000024900.1
protective
(May 18, 2015)
no assertion criteria providedliterature only
  • Bacteremia, resistance to[MedGen]
germlineOMIMSCV000044818.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017