U.S. flag

An official website of the United States government

NM_001622.4(AHSG):c.574-298T>G AND Calcium oxalate urolithiasis

Germline classification:
association (1 submission)
Last evaluated:
Mar 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000128583.3

Allele description [Variation Report for NM_001622.4(AHSG):c.574-298T>G]

NM_001622.4(AHSG):c.574-298T>G

Gene:
AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.3
Genomic location:
Preferred name:
NM_001622.4(AHSG):c.574-298T>G
HGVS:
  • NC_000003.12:g.186618238T>G
  • NG_011436.1:g.10178T>G
  • NM_001354571.2:c.577-298T>G
  • NM_001354572.2:c.571-298T>G
  • NM_001354573.2:c.574-298T>G
  • NM_001622.4:c.574-298T>GMANE SELECT
  • NC_000003.11:g.186336027T>G
  • NM_001622.2:c.574-298T>G
Links:
dbSNP: rs2070634
NCBI 1000 Genomes Browser:
rs2070634
Molecular consequence:
  • NM_001354571.2:c.577-298T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354572.2:c.571-298T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354573.2:c.574-298T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001622.4:c.574-298T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Calcium oxalate urolithiasis
Synonyms:
Calcium oxalate nephrolithiasis
Identifiers:
MONDO: MONDO:0957318; MedGen: C1833683; OMIM: PS167030; Human Phenotype Ontology: HP:0008672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000147942Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University
no assertion criteria provided
association
(Mar 1, 2014) 		somaticcase-control

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiansomaticyes175not providednot provided206not providedcase-control

Citations

PubMed

A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.

Rungroj N, Nettuwakul C, Sudtachat N, Praditsap O, Sawasdee N, Sritippayawan S, Chuawattana D, Yenchitsomanus PT.

BMC Med Genet. 2014 May 2;15:50. doi: 10.1186/1471-2350-15-50.

PubMed [citation]
PMID:
24886237
PMCID:
PMC4031563

Details of each submission

From Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, SCV000147942.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian175not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes206WBCnot provided175not providednot providednot provided

Last Updated: Sep 16, 2024