NM_005214.4(CTLA4):c.49A>G (p.Thr17Ala)

Variation ID: Help
16921
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_005214.4(CTLA4):c.49A>G (p.Thr17Ala)

Allele ID:
31960
Variant type:
single nucleotide variant
Cytogenetic location:
2q33
Genomic location:
  • Chr2: 203867991 (on Assembly GRCh38)
  • Chr2: 204732714 (on Assembly GRCh37)
Other names:
  • CTLA4, 49A-G, THR17ALA
Protein change:
T17A
HGVS:
  • NG_011502.1:g.5206A>G
  • NM_005214.4:c.49A>G
  • NC_000002.12:g.203867991A>G (GRCh38)
  • NP_005205.2:p.Thr17Ala
  • NC_000002.11:g.204732714A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs231775
Molecular consequence:
NM_005214.4:c.49A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.36944 (G)
  • GMAF 0.42730 (G)

1 Affected gene

Variant frequency in dbGaP Help

NM_005214.4(CTLA4):c.49A>G (p.Thr17Ala)

GRCh37 Chr2:204732714
Called variantsPotential variants
Sample count7386 of 1090124920 of 40909

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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
risk factor
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Hashimoto thyroiditis, susceptibility to
germlineOMIMSCV000038705.1
risk factor
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Thyroid-associated orbitopathy, susceptibility to
germlineOMIMSCV000038706.1
risk factor
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Systemic lupus erythematosus, susceptibility to
germlineOMIMSCV000038707.1
risk factor
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Diabetes mellitus, insulin-dependent, susceptibility to
germlineOMIMSCV000038708.1
risk factor
(Apr 1, 2005)
no assertion criteria providedliterature onlygermlineOMIMSCV000038709.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016