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NM_001622.3(AHSG):c.574-298T>G

Variation ID: Help
126865
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
association
Last evaluated:
Mar 1, 2014
Number of submission(s):
1
Condition(s):
Calcium oxalate urolithiasis[MedGen - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_001622.3(AHSG):c.574-298T>G

Allele ID:
132378
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.3
Genomic location:
  • Chr3: 186618238 (on Assembly GRCh38)
  • Chr3: 186336027 (on Assembly GRCh37)
  • Chr3: 187818721 (on Assembly NCBI36)
HGVS:
  • NG_011436.1:g.10178T>G
  • NM_001622.3:c.574-298T>G
  • NC_000003.12:g.186618238T>G (GRCh38)
  • NC_000003.11:g.186336027T>G (GRCh37)
  • NM_001622.2:c.574-298T>G
Links:
NCBI 1000 Genomes Browser:
rs2070634
Molecular consequence:
NM_001622.3:c.574-298T>G: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.49621 (T)
  • 1000 Genomes Project 0.50379
  • The Genome Aggregation Database (gnomAD) 0.48174
  • Trans-Omics for Precision Medicine (TOPMed) 0.47389

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
association
(Mar 1, 2014)
no assertion criteria providedcase-controlsomaticDivision of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development,Faculty of Medicine Siriraj Hospital, Mahidol UniversitySCV000147942.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development,Faculty of Medicine Siriraj Hospital, Mahidol Universitynot provided350somaticSouth East AsianThailandnot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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