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NM_003865.2(HESX1):c.200G>A (p.Ser67Asn)

Variation ID: Help
492847
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Sep 15, 2011
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_003865.2(HESX1):c.200G>A (p.Ser67Asn)

Allele ID:
485733
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.3
Genomic location:
  • Chr3: 57198910 (on Assembly GRCh38)
  • Chr3: 57232938 (on Assembly GRCh37)
Protein change:
S67N
HGVS:
  • NG_008242.1:g.6343G>A
  • NM_003865.2:c.200G>A
  • NP_003856.1:p.Ser67Asn
  • NC_000003.12:g.57198910C>T (GRCh38)
  • NC_000003.11:g.57232938C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs141863326
Molecular consequence:
NM_003865.2:c.200G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00040 (G)
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00009
  • Trans-Omics for Precision Medicine (TOPMed) 0.00004

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
Uncertain significance
(Sep 15, 2011)
no assertion criteria providedclinical testinggermline
    Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's HospitalSCV000692271.1
    Uncertain significance
    (Sep 15, 2011)
    no assertion criteria providedclinical testing
    • Pituitary hormone deficiency, combined 1[MedGen | OMIM]
    germline
      Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's HospitalSCV000692272.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalnot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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