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NM_015967.6(PTPN22):c.1858C>T (p.Arg620Trp)

Variation ID: Help
8909
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_015967.6(PTPN22):c.1858C>T (p.Arg620Trp)

Allele ID:
23948
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
  • Chr1: 113834946 (on Assembly GRCh38)
  • Chr1: 114377568 (on Assembly GRCh37)
Protein change:
R620W
HGVS:
  • NG_011432.1:g.41808C>T
  • NM_015967.6:c.1858C>T
  • NP_057051.3:p.Arg620Trp
  • NC_000001.11:g.113834946A= (GRCh38)
  • NC_000001.10:g.114377568A= (GRCh37)
  • NM_015967.5:c.1858C>T
Links:
NCBI 1000 Genomes Browser:
rs2476601
Molecular consequence:
NM_015967.6:c.1858C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.02740 (A)
  • ExAC 0.06684 (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
(Aug 14, 2011)
no assertion criteria providedliterature only
  • Diabetes mellitus, insulin-dependent, susceptibility to
germlineOMIMSCV000029678.1
risk factor
(Aug 14, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000029679.1
risk factor
(Aug 14, 2011)
no assertion criteria providedliterature only
  • Systemic lupus erythematosus, susceptibility to
germlineOMIMSCV000029680.1
risk factor
(Aug 14, 2011)
no assertion criteria providedliterature only
  • Hashimoto thyroiditis, susceptibility to
germlineOMIMSCV000029681.1
risk factor
(Aug 14, 2011)
no assertion criteria providedliterature only
  • Addison disease, susceptibility to
germlineOMIMSCV000029682.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 20, 2018