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NM_003150.3(STAT3):c.1974G>C (p.Lys658Asn)

Variation ID: Help
144032
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 1, 2014
Number of submission(s):
1
Condition(s):
Autoimmune disease, multisystem, infantile-onset, 1[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003150.3(STAT3):c.1974G>C (p.Lys658Asn)

Allele ID:
153771
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
  • Chr17: 42322409 (on Assembly GRCh38)
  • Chr17: 40474427 (on Assembly GRCh37)
Protein change:
K658N
HGVS:
  • NG_007370.1:g.71087G>C
  • NM_003150.3:c.1974G>C
  • NM_139276.2:c.1974G>C
  • NP_003141.2:p.Lys658Asn
  • NP_644805.1:p.Lys658Asn
  • NC_000017.11:g.42322409C>G (GRCh38)
  • LRG_112t1:c.1974G>C
  • NC_000017.10:g.40474427C>G (GRCh37)
  • P40763:p.Lys658Asn
  • LRG_112p1:p.Lys658Asn
  • LRG_112:g.71087G>C
Links:
NCBI 1000 Genomes Browser:
rs587777650
Molecular consequence:
NM_139276.2:c.1974G>C: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

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
Pathogenic
(Aug 1, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000188615.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 30, 2018