NM_000030.3(AGXT):c.165+40A>C AND Primary hyperoxaluria, type I

Clinical significance:Benign (Last evaluated: Mar 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000186230.1

Allele description [Variation Report for NM_000030.3(AGXT):c.165+40A>C]

NM_000030.3(AGXT):c.165+40A>C

Gene:
AGXT:alanine--glyoxylate and serine--pyruvate aminotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_000030.3(AGXT):c.165+40A>C
HGVS:
  • NC_000002.12:g.240869070A>C
  • NG_008005.1:g.5326A>C
  • NM_000030.3:c.165+40A>CMANE SELECT
  • NC_000002.11:g.241808487A>C
  • NM_000030.2:c.166-100A>C
Links:
dbSNP: rs57017537
NCBI 1000 Genomes Browser:
rs57017537
Molecular consequence:
  • NM_000030.3:c.165+40A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary hyperoxaluria, type I (HP1)
Synonyms:
OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
Identifiers:
MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000239554Clinical Biochemistry Laboratory,Health Services Laboratoryno assertion criteria providedUncertain significance
(Nov 27, 2014)
germlineresearch

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

Citation Link,

SCV000790214Counsylcriteria provided, single submitter
Benign
(Mar 23, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PubMed [citation]
PMID:
19479957

Details of each submission

From Clinical Biochemistry Laboratory,Health Services Laboratory, SCV000239554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790214.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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