NM_012203.1(GRHPR):c.454dupA (p.Thr152Asnfs) AND Primary hyperoxaluria, type II

Clinical significance:Likely pathogenic (Last evaluated: Jun 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411634.1

Allele description

NM_012203.1(GRHPR):c.454dupA (p.Thr152Asnfs)

Gene:
GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_012203.1(GRHPR):c.454dupA (p.Thr152Asnfs)
HGVS:
  • NC_000009.12:g.37428533dupA
  • NG_008135.1:g.10824dupA
  • NM_012203.1:c.454dupA
  • NP_036335.1:p.Thr152Asnfs
  • NC_000009.11:g.37428530dupA
Links:
dbSNP: rs1057516941
NCBI 1000 Genomes Browser:
rs1057516941
Molecular consequence:
  • NM_012203.1:c.454dupA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Primary hyperoxaluria, type II (HP2)
Synonyms:
OXALOSIS II
Identifiers:
MedGen: C0268165; Orphanet: 416; Orphanet: 93599; OMIM: 260000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486469Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 6, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium..

J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2.

PubMed [citation]
PMID:
25644115
PMCID:
PMC4587693

Details of each submission

From Counsyl, SCV000486469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 5, 2017

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