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NM_194255.2(SLC19A1):c.80A>G (p.His27Arg)

Variation ID: Help
157588
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_194255.2(SLC19A1):c.80A>G (p.His27Arg)

Allele ID:
167450
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
  • Chr21: 45537880 (on Assembly GRCh38)
  • Chr21: 46957794 (on Assembly GRCh37)
Protein change:
H27R
HGVS:
  • NG_028278.1:g.9592A>G
  • NM_194255.2:c.80A>G
  • NP_919231.1:p.His27Arg
  • NC_000021.9:g.45537880T>C (GRCh38)
  • NC_000021.8:g.46957794T>C (GRCh37)
  • P41440:p.His27Arg
Links:
NCBI 1000 Genomes Browser:
rs1051266
Molecular consequence:
NM_194255.2:c.80A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.48862 (C)
  • 1000 Genomes Project 0.48862
  • Exome Aggregation Consortium (ExAC) 0.57697
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.50932
  • The Genome Aggregation Database (gnomAD) 0.51129
  • The Genome Aggregation Database (gnomAD), exomes 0.55140
  • Trans-Omics for Precision Medicine (TOPMed) 0.51340

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 significanceno assertion criteria providedcase-controlgermlineDepartment of Pharmacy and Biotechnology,University of BolognaSCV000187672.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Department of Pharmacy and Biotechnology,University of Bolognanot provided76germlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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