U.S. flag

An official website of the United States government

NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) AND Primary hyperoxaluria type 3

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:
RCV000186487.10

Allele description [Variation Report for NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)]

NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)

Gene:
HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.2
Genomic location:
Preferred name:
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)
HGVS:
  • NC_000010.11:g.97598790G>A
  • NG_027922.1:g.19446G>A
  • NM_001134670.2:c.212-3067G>A
  • NM_138413.4:c.227G>AMANE SELECT
  • NP_612422.2:p.Gly76Asp
  • NC_000010.10:g.99358547G>A
  • NM_138413.3:c.227G>A
Protein change:
G76D
Links:
dbSNP: rs796052088
NCBI 1000 Genomes Browser:
rs796052088
Molecular consequence:
  • NM_001134670.2:c.212-3067G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138413.4:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary hyperoxaluria type 3
Synonyms:
PH III; Primary hyperoxaluria, type III
Identifiers:
MONDO: MONDO:0013327; MedGen: C3150878; Orphanet: 416; Orphanet: 93600; OMIM: 613616

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
SCV000239849Clinical Biochemistry Laboratory, Health Services Laboratory
no assertion criteria provided
Pathogenic
(Nov 27, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Clinical Biochemistry Laboratory, Health Services Laboratory, SCV000239849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

prediction

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024