NM_003151.3(STAT4):c.274-23582A=

Variation ID: Help
31932
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Nov 1, 2009
Number of submission(s):
1
Condition(s):
Systemic lupus erythematosus 11[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003151.3(STAT4):c.274-23582A=

Allele ID:
40594
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
  • Chr2: 191099907 (on Assembly GRCh38)
  • Chr2: 191964633 (on Assembly GRCh37)
Other names:
  • G-T (rs7574865)
HGVS:
  • NG_012852.1:g.56293A=
  • NM_003151.3:c.274-23582A=
  • NC_000002.12:g.191099907T= (GRCh38)
  • NC_000002.11:g.191964633T= (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs7574865
Molecular consequence:
NM_003151.3:c.274-23582A=: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
GMAF 0.25540 (T)

1 Affected gene

Variant frequency in dbGaP Help

NM_003151.3(STAT4):c.274-23582A=

GRCh37 Chr2:191964633
Called variantsPotential variants
Sample countno data470 of 1261

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
(Nov 1, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000050478.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 7, 2017