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NM_002188.2(IL13):c.431A>G (p.Gln144Arg)

Variation ID: Help
14673
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Mar 1, 2005
Number of submission(s):
2
Condition(s):
  • Asthma, susceptibility to [MedGen - OMIM]
  • Allergic rhinitis, susceptibility to
See supporting ClinVar records

Allele(s) Help

NM_002188.2(IL13):c.431A>G (p.Gln144Arg)

Allele ID:
29712
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
  • Chr5: 132660272 (on Assembly GRCh38)
  • Chr5: 131995964 (on Assembly GRCh37)
Protein change:
R130Q, Q144R
HGVS:
  • NG_012090.1:g.7100A>G
  • NM_002188.2:c.431A>G
  • NP_002179.2:p.Gln144Arg
  • NC_000005.10:g.132660272A>G (GRCh38)
  • NC_000005.9:g.131995964A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs20541
Molecular consequence:
NM_002188.2:c.431A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.81270 (G)
  • GMAF 0.27000 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Mar 1, 2005)
no assertion criteria providedliterature onlygermlineOMIMSCV000036052.2
risk factor
(Mar 1, 2005)
no assertion criteria providedliterature only
  • Allergic rhinitis, susceptibility to
germlineOMIMSCV000036053.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 14, 2018