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NM_000030.3(AGXT):c.919del (p.Leu307fs) AND Primary hyperoxaluria, type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 27, 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:
RCV000186414.10

Allele description [Variation Report for NM_000030.3(AGXT):c.919del (p.Leu307fs)]

NM_000030.3(AGXT):c.919del (p.Leu307fs)

Gene:
AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_000030.3(AGXT):c.919del (p.Leu307fs)
HGVS:
  • NC_000002.12:g.240877609del
  • NG_008005.1:g.13865del
  • NM_000030.3:c.919delMANE SELECT
  • NP_000021.1:p.Leu307fs
  • NC_000002.11:g.241817026del
  • NM_000030.2:c.919delC
  • NP_000021.1:p.Leu307fs
Protein change:
L307fs
Links:
dbSNP: rs180177295
NCBI 1000 Genomes Browser:
rs180177295
Molecular consequence:
  • NM_000030.3:c.919del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Primary hyperoxaluria, type I (HP1)
Synonyms:
OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239764Clinical Biochemistry Laboratory, Health Services Laboratory
no assertion criteria provided
Pathogenic
(Nov 27, 2014) 		germlineresearch

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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, SCV000239764.1

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

Last Updated: Oct 26, 2024