NM_001363.4(DKC1):c.361A>G (p.Ser121Gly)

Variation ID: Help
11592
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001363.4(DKC1):c.361A>G (p.Ser121Gly)

Allele ID:
26631
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
  • ChrX: 154766313 (on Assembly GRCh38)
  • ChrX: 153994588 (on Assembly GRCh37)
Protein change:
S121G
HGVS:
  • NG_009780.1:g.8558A>G
  • NM_001363.4:c.361A>G
  • NP_001354.1:p.Ser121Gly
  • NC_000023.11:g.154766313A>G (GRCh38)
  • LRG_55t1:c.361A>G
  • NR_110021.1:n.1062A>G
  • NC_000023.10:g.153994588A>G (GRCh37)
  • NM_001363.3:c.361A>G
  • O60832:p.Ser121Gly
  • LRG_55p1:p.Ser121Gly
  • LRG_55:g.8558A>G
Links:
NCBI 1000 Genomes Browser:
rs121912305
Molecular consequence:
  • NM_001363.4:c.361A>G: missense variant SO:0001583
  • NR_110021.1:n.1062A>G: non-coding transcript variant SO:0001619

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
Likely pathogenic
(Nov 19, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000568375.2
    Pathogenic
    (Dec 1, 2009)
    no assertion criteria providedliterature onlygermlineOMIMSCV000032584.2
    Pathogenic
    (May 10, 2012)
    no assertion criteria providedliterature onlynot providedGeneReviewsSCV000055792.1
    not providedno assertion providedliterature onlygermline
      UniProtKB/Swiss-ProtSCV000090832.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, not providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe S121G variant in the DKC1 …Full description
      GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      UniProtKB/Swiss-Protnot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Dec 11, 2017