GRHPR (glyoxylate and hydroxypyruvate reductase) - Rat Genome Database

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Gene: GRHPR (glyoxylate and hydroxypyruvate reductase) Homo sapiens
Analyze
Symbol: GRHPR
Name: glyoxylate and hydroxypyruvate reductase
RGD ID: 1318860
HGNC Page HGNC
Description: Exhibits NADPH binding activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; and protein homodimerization activity. Involved in excretion and glyoxylate metabolic process. Localizes to catalytic complex and cytoplasm. Implicated in primary hyperoxaluria and primary hyperoxaluria type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GLXR; glycerate-2-dehydrogenase; GLYD; glyoxylate reductase and hydroxypyruvate reductase; glyoxylate reductase/hydroxypyruvate reductase; PH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl937,422,666 - 37,436,990 (+)EnsemblGRCh38hg38GRCh38
GRCh38937,422,435 - 37,438,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37937,422,693 - 37,436,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36937,412,707 - 37,426,986 (+)NCBINCBI36hg18NCBI36
Build 34937,412,706 - 37,426,986NCBI
Celera937,355,941 - 37,370,220 (+)NCBI
Cytogenetic Map9p13.2NCBI
HuRef937,374,615 - 37,388,916 (+)NCBIHuRef
CHM1_1937,424,404 - 37,438,680 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10524214   PMID:10679197   PMID:11030416   PMID:11076863   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15231747   PMID:15327387   PMID:15489334   PMID:15489336   PMID:15956068  
PMID:16381901   PMID:16756993   PMID:17510093   PMID:19056867   PMID:19296982   PMID:20301742   PMID:20458337   PMID:21873635   PMID:21988832   PMID:22658674   PMID:22939629   PMID:22990118  
PMID:23376485   PMID:23486161   PMID:23533145   PMID:23599041   PMID:24116921   PMID:24981860   PMID:26344197   PMID:27684187   PMID:29467282   PMID:29540532   PMID:29676528   PMID:29955894  
PMID:30425250   PMID:30575818   PMID:31536960   PMID:31796584   PMID:31980649   PMID:32176739  


Genomics

Comparative Map Data
GRHPR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl937,422,666 - 37,436,990 (+)EnsemblGRCh38hg38GRCh38
GRCh38937,422,435 - 37,438,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37937,422,693 - 37,436,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36937,412,707 - 37,426,986 (+)NCBINCBI36hg18NCBI36
Build 34937,412,706 - 37,426,986NCBI
Celera937,355,941 - 37,370,220 (+)NCBI
Cytogenetic Map9p13.2NCBI
HuRef937,374,615 - 37,388,916 (+)NCBIHuRef
CHM1_1937,424,404 - 37,438,680 (+)NCBICHM1_1
Grhpr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39444,981,394 - 44,990,734 (+)NCBIGRCm39mm39
GRCm39 Ensembl444,981,395 - 44,990,734 (+)Ensembl
GRCm38444,981,394 - 44,990,734 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl444,981,395 - 44,990,734 (+)EnsemblGRCm38mm10GRCm38
MGSCv37444,994,283 - 45,003,568 (+)NCBIGRCm37mm9NCBIm37
MGSCv36445,002,511 - 45,011,796 (+)NCBImm8
Celera445,001,471 - 45,010,756 (+)NCBICelera
Cytogenetic Map4B1NCBI
Grhpr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2559,234,179 - 59,243,614 (+)NCBI
Rnor_6.0 Ensembl560,528,997 - 60,538,375 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0560,528,981 - 60,538,410 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0565,037,813 - 65,047,242 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4561,536,652 - 61,545,982 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1561,502,910 - 61,546,124 (+)NCBI
Celera557,802,736 - 57,812,175 (+)NCBICelera
Cytogenetic Map5q22NCBI
Grhpr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541929,032,600 - 29,044,257 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541929,032,591 - 29,044,046 (-)NCBIChiLan1.0ChiLan1.0
GRHPR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1938,192,149 - 38,206,478 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl938,192,149 - 38,206,478 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0937,267,918 - 37,282,253 (+)NCBIMhudiblu_PPA_v0panPan3
GRHPR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11153,748,389 - 53,759,692 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1153,748,414 - 53,759,693 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1152,338,611 - 52,350,198 (+)NCBI
ROS_Cfam_1.01154,858,069 - 54,869,657 (+)NCBI
UMICH_Zoey_3.11153,356,298 - 53,367,876 (+)NCBI
UNSW_CanFamBas_1.01153,385,397 - 53,396,943 (+)NCBI
UU_Cfam_GSD_1.01154,081,961 - 54,093,542 (+)NCBI
Grhpr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947168,661,215 - 168,671,975 (+)NCBI
SpeTri2.0NW_0049365245,208,793 - 5,219,555 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRHPR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1238,139,789 - 238,153,071 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11238,139,764 - 238,151,631 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21266,090,894 - 266,101,733 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRHPR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11243,157,323 - 43,171,546 (-)NCBI
ChlSab1.1 Ensembl1243,156,840 - 43,171,532 (-)Ensembl
Vero_WHO_p1.0NW_02366603840,225,479 - 40,239,697 (-)NCBI
Grhpr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249301,043,643 - 1,054,216 (+)NCBI

Position Markers
RH35879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,436,722 - 37,436,851UniSTSGRCh37
Build 36937,426,722 - 37,426,851RGDNCBI36
Celera937,369,956 - 37,370,085RGD
Cytogenetic Map9q12UniSTS
HuRef937,388,652 - 37,388,781UniSTS
GeneMap99-GB4 RH Map9147.45UniSTS
NCBI RH Map9549.6UniSTS
RH45280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,435,226 - 37,435,456UniSTSGRCh37
Build 36937,425,226 - 37,425,456RGDNCBI36
Celera937,368,460 - 37,368,690RGD
Cytogenetic Map9q12UniSTS
HuRef937,387,156 - 37,387,386UniSTS
GeneMap99-GB4 RH Map9147.45UniSTS
NCBI RH Map9549.6UniSTS
SHGC-84462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,429,620 - 37,429,779UniSTSGRCh37
Build 36937,419,620 - 37,419,779RGDNCBI36
Celera937,362,854 - 37,363,013RGD
Cytogenetic Map9q12UniSTS
HuRef937,381,551 - 37,381,710UniSTS
TNG Radiation Hybrid Map920125.0UniSTS
RH45369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,425,548 - 37,425,757UniSTSGRCh37
Build 36937,415,548 - 37,415,757RGDNCBI36
Celera937,358,782 - 37,358,991RGD
Cytogenetic Map9q12UniSTS
HuRef937,377,479 - 37,377,688UniSTS
GeneMap99-GB4 RH Map9149.01UniSTS
NCBI RH Map9549.6UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2648
Count of miRNA genes:969
Interacting mature miRNAs:1189
Transcripts:ENST00000318158, ENST00000377824, ENST00000460882, ENST00000480596, ENST00000482603, ENST00000487399, ENST00000491488, ENST00000493368, ENST00000494290, ENST00000497693, ENST00000512404, ENST00000607784
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2435 2397 1721 623 1444 464 4357 2106 3569 409 1455 1605 175 1 1204 2788 6 2
Low 4 594 5 1 507 1 91 165 10 5 8
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF113215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318158   ⟹   ENSP00000313432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,696 - 37,436,990 (+)Ensembl
RefSeq Acc Id: ENST00000377824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,714 - 37,431,719 (+)Ensembl
RefSeq Acc Id: ENST00000460882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,696 - 37,436,848 (+)Ensembl
RefSeq Acc Id: ENST00000480596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,428,538 - 37,436,987 (+)Ensembl
RefSeq Acc Id: ENST00000482603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,429,786 - 37,432,811 (+)Ensembl
RefSeq Acc Id: ENST00000487399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,714 - 37,426,650 (+)Ensembl
RefSeq Acc Id: ENST00000491488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,725 - 37,436,692 (+)Ensembl
RefSeq Acc Id: ENST00000493368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,666 - 37,429,158 (+)Ensembl
RefSeq Acc Id: ENST00000494290   ⟹   ENSP00000432021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,428,995 - 37,436,990 (+)Ensembl
RefSeq Acc Id: ENST00000497693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,427,706 - 37,436,989 (+)Ensembl
RefSeq Acc Id: ENST00000512404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,432,087 - 37,433,881 (+)Ensembl
RefSeq Acc Id: ENST00000607784   ⟹   ENSP00000475569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl937,422,746 - 37,434,879 (+)Ensembl
RefSeq Acc Id: NM_012203   ⟹   NP_036335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,696 - 37,436,990 (+)NCBI
GRCh37937,422,693 - 37,436,990 (+)NCBI
Build 36937,412,707 - 37,426,986 (+)NCBI Archive
HuRef937,374,615 - 37,388,916 (+)ENTREZGENE
CHM1_1937,424,404 - 37,438,680 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251631   ⟹   XP_005251688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,696 - 37,436,993 (+)NCBI
GRCh37937,422,693 - 37,436,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015320   ⟹   XP_016870809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,695 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015321   ⟹   XP_016870810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,695 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015323   ⟹   XP_016870812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,695 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447716   ⟹   XP_024303484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,435 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447717   ⟹   XP_024303485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,435 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956828
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,435 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956829
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,435 - 37,438,952 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956830
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,692 - 37,436,993 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956831
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,696 - 37,436,993 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956832
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,692 - 37,436,993 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036335   ⟸   NM_012203
- UniProtKB: Q9UBQ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251688   ⟸   XM_005251631
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016870809   ⟸   XM_017015320
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016870810   ⟸   XM_017015321
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016870812   ⟸   XM_017015323
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303484   ⟸   XM_024447716
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303485   ⟸   XM_024447717
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000432021   ⟸   ENST00000494290
RefSeq Acc Id: ENSP00000475569   ⟸   ENST00000607784
RefSeq Acc Id: ENSP00000313432   ⟸   ENST00000318158
Protein Domains
2-Hacid_dh   2-Hacid_dh_C

Promoters
RGD ID:6807753
Promoter ID:HG_KWN:63160
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377824,   OTTHUMT00000052442,   OTTHUMT00000052443,   OTTHUMT00000052448,   OTTHUMT00000052450,   UC003ZZT.1,   UC010MLV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36937,412,061 - 37,412,747 (+)MPROMDB
RGD ID:6852396
Promoter ID:EP74006
Type:initiation region
Name:HS_GRHPR
Description:Glyoxylate reductase/hydroxypyruvate reductase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36937,412,695 - 37,412,755EPD
RGD ID:6808123
Promoter ID:HG_KWN:63161
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052446,   OTTHUMT00000052447,   OTTHUMT00000052449,   OTTHUMT00000052461,   UC003ZZV.1,   UC003ZZW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36937,417,196 - 37,422,172 (+)MPROMDB
RGD ID:7215079
Promoter ID:EPDNEW_H13285
Type:initiation region
Name:GRHPR_1
Description:glyoxylate and hydroxypyruvate reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,422,698 - 37,422,758EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012203.1(GRHPR):c.866-25_866-10CT(8_9) microsatellite Primary hyperoxaluria, type II [RCV000020680] Chr9:37436636..37436637 [GRCh38]
Chr9:37436633..37436634 [GRCh37]
Chr9:9p13.2
benign
NM_012203.2(GRHPR):c.748A>T (p.Asn250Tyr) single nucleotide variant not provided [RCV000723259] Chr9:37432021 [GRCh38]
Chr9:37432018 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.103del (p.Asp35fs) deletion Nephrocalcinosis [RCV000662321]|Primary hyperoxaluria, type II [RCV000005990]|not provided [RCV000724161] Chr9:37424862 [GRCh38]
Chr9:37424859 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) single nucleotide variant Primary hyperoxaluria [RCV000590094]|Primary hyperoxaluria, type II [RCV000005991]|not provided [RCV000579200] Chr9:37426545 [GRCh38]
Chr9:37426542 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.1(GRHPR):c.403_405+2delAAGT deletion Primary hyperoxaluria, type II [RCV000020678] Chr9:37426653..37426656 [GRCh38]
Chr9:37426650..37426653 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) single nucleotide variant Primary hyperoxaluria, type II [RCV000020679]|not specified [RCV000250020] Chr9:37429817 [GRCh38]
Chr9:37429814 [GRCh37]
Chr9:9p13.2
benign|conflicting interpretations of pathogenicity
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_012203.2(GRHPR):c.404+5G>A single nucleotide variant Nephrocalcinosis [RCV000662322]|not provided [RCV001223285] Chr9:37426659 [GRCh38]
Chr9:37426656 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) single nucleotide variant Primary hyperoxaluria, type II [RCV000149443]|not provided [RCV000794534] Chr9:37436699 [GRCh38]
Chr9:37436696 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic|not provided
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) microsatellite Primary hyperoxaluria [RCV000588010]|Primary hyperoxaluria, type II [RCV000149441]|not provided [RCV001041549] Chr9:37432135..37432136 [GRCh38]
Chr9:37432132..37432133 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) microsatellite Primary hyperoxaluria, type II [RCV000149442] Chr9:37425953..37425954 [GRCh38]
Chr9:37425950..37425951 [GRCh37]
Chr9:9p13.2
pathogenic|not provided
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_012203.2(GRHPR):c.356_369dup (p.Arg124fs) duplication Primary hyperoxaluria, type II [RCV000186455] Chr9:37426600..37426601 [GRCh38]
Chr9:37426597..37426598 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) single nucleotide variant Primary hyperoxaluria, type II [RCV000169087] Chr9:37426587 [GRCh38]
Chr9:37426584 [GRCh37]
Chr9:9p13.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_012203.2(GRHPR):c.83+52del deletion Primary hyperoxaluria, type II [RCV000186425] Chr9:37422884 [GRCh38]
Chr9:37422881 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.215-11C>T single nucleotide variant Primary hyperoxaluria, type II [RCV000186426] Chr9:37425911 [GRCh38]
Chr9:37425908 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.288-11C>T single nucleotide variant Primary hyperoxaluria, type II [RCV000186427]|not specified [RCV000253996] Chr9:37426527 [GRCh38]
Chr9:37426524 [GRCh37]
Chr9:9p13.2
benign|uncertain significance
NM_012203.2(GRHPR):c.493+27C>T single nucleotide variant Primary hyperoxaluria, type II [RCV000186428] Chr9:37428599 [GRCh38]
Chr9:37428596 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.494-68A>G single nucleotide variant Primary hyperoxaluria, type II [RCV000186429] Chr9:37429664 [GRCh38]
Chr9:37429661 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.579= (p.Ala193=) single nucleotide variant Primary hyperoxaluria, type II [RCV000186430] Chr9:37429817 [GRCh38]
Chr9:37429814 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.598+145G>T single nucleotide variant Primary hyperoxaluria, type II [RCV000186431] Chr9:37429981 [GRCh38]
Chr9:37429978 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.734+9G>A single nucleotide variant Primary hyperoxaluria, type II [RCV000186432] Chr9:37430655 [GRCh38]
Chr9:37430652 [GRCh37]
Chr9:9p13.2
benign|likely benign|uncertain significance
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) single nucleotide variant Primary hyperoxaluria, type II [RCV000186433] Chr9:37432013 [GRCh38]
Chr9:37432010 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.1(GRHPR):c.866-25CT[9] microsatellite Primary hyperoxaluria, type II [RCV000186434]|not specified [RCV000241767] Chr9:37436635..37436636 [GRCh38]
Chr9:37436633 [GRCh37]
Chr9:9p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) single nucleotide variant Primary hyperoxaluria, type II [RCV000186435] Chr9:37436666 [GRCh38]
Chr9:37436663 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) single nucleotide variant Primary hyperoxaluria, type II [RCV000186436]|not provided [RCV000966377] Chr9:37436758 [GRCh38]
Chr9:37436755 [GRCh37]
Chr9:9p13.2
benign|uncertain significance
NM_012203.2(GRHPR):c.-4_-3delinsAT indel Primary hyperoxaluria, type II [RCV000186437] Chr9:37422747..37422748 [GRCh38]
Chr9:37422744..37422745 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV000186438]|not provided [RCV001390116] Chr9:37424863 [GRCh38]
Chr9:37424860 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) single nucleotide variant Primary hyperoxaluria, type II [RCV000186439] Chr9:37424964 [GRCh38]
Chr9:37424961 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) single nucleotide variant Primary hyperoxaluria, type II [RCV000186440] Chr9:37425994 [GRCh38]
Chr9:37425991 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) single nucleotide variant Primary hyperoxaluria, type II [RCV000186441] Chr9:37428557 [GRCh38]
Chr9:37428554 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) single nucleotide variant Primary hyperoxaluria [RCV000585941]|Primary hyperoxaluria, type II [RCV000186442]|not provided [RCV000802868] Chr9:37429732 [GRCh38]
Chr9:37429729 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) single nucleotide variant Primary hyperoxaluria, type II [RCV000186443] Chr9:37432016 [GRCh38]
Chr9:37432013 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) single nucleotide variant Primary hyperoxaluria, type II [RCV000186444] Chr9:37436700 [GRCh38]
Chr9:37436697 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) single nucleotide variant Primary hyperoxaluria, type II [RCV000186445] Chr9:37436729 [GRCh38]
Chr9:37436726 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) single nucleotide variant Primary hyperoxaluria, type II [RCV000186446] Chr9:37436760 [GRCh38]
Chr9:37436757 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) single nucleotide variant Primary hyperoxaluria, type II [RCV000186447] Chr9:37436760 [GRCh38]
Chr9:37436757 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.84-2A>G single nucleotide variant Primary hyperoxaluria, type II [RCV000186448] Chr9:37424843 [GRCh38]
Chr9:37424840 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.1(GRHPR):c.403_404+2delAAGT deletion Primary hyperoxaluria, type II [RCV000186449] Chr9:37426653..37426656 [GRCh38]
Chr9:37426650..37426653 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.493+2T>A single nucleotide variant Primary hyperoxaluria, type II [RCV000186450]|not provided [RCV001238281] Chr9:37428574 [GRCh38]
Chr9:37428571 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_012203.2(GRHPR):c.735-1G>A single nucleotide variant Primary hyperoxaluria, type II [RCV000186451]|not provided [RCV000806551] Chr9:37432007 [GRCh38]
Chr9:37432004 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_012203.2(GRHPR):c.45del (p.Ala17fs) deletion Primary hyperoxaluria, type II [RCV000186452] Chr9:37422795 [GRCh38]
Chr9:37422792 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.288-2_288del deletion Primary hyperoxaluria, type II [RCV000186454] Chr9:37426534..37426536 [GRCh38]
Chr9:37426531..37426533 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.375del (p.Leu126fs) deletion Primary hyperoxaluria, type II [RCV000186456] Chr9:37426624 [GRCh38]
Chr9:37426621 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.404+3_404+6del microsatellite Primary hyperoxaluria, type II [RCV000186457]|not provided [RCV001057355] Chr9:37426653..37426656 [GRCh38]
Chr9:37426650..37426653 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_012203.2(GRHPR):c.540del (p.Leu181fs) deletion Primary hyperoxaluria, type II [RCV000186458] Chr9:37429776 [GRCh38]
Chr9:37429773 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) deletion Primary hyperoxaluria, type II [RCV000186459]|not provided [RCV001048824] Chr9:37430520..37430521 [GRCh38]
Chr9:37430517..37430518 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.694del (p.Gln232fs) deletion Primary hyperoxaluria, type II [RCV000186460]|not provided [RCV001008140] Chr9:37430605 [GRCh38]
Chr9:37430602 [GRCh37]
Chr9:9p13.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) single nucleotide variant Primary hyperoxaluria, type II [RCV000669576] Chr9:37422751 [GRCh38]
Chr9:37422748 [GRCh37]
Chr9:9p13.2
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) deletion Primary hyperoxaluria, type II [RCV000668932] Chr9:37428532..37428540 [GRCh38]
Chr9:37428529..37428537 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) duplication Primary hyperoxaluria, type II [RCV000669348] Chr9:37436728..37436729 [GRCh38]
Chr9:37436725..37436726 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.1(GRHPR):c.866-10_866-9dupTC duplication not specified [RCV000241767] Chr9:37436651..37436652 [GRCh38]
Chr9:37436648..37436649 [GRCh37]
Chr9:9p13.2
benign
NM_012203.2(GRHPR):c.493+9C>T single nucleotide variant Primary hyperoxaluria, type II [RCV000295367]|not provided [RCV000952939]|not specified [RCV000245251] Chr9:37428581 [GRCh38]
Chr9:37428578 [GRCh37]
Chr9:9p13.2
benign|likely benign|uncertain significance
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) single nucleotide variant Primary hyperoxaluria, type II [RCV000306847]|not provided [RCV000967757] Chr9:37432074 [GRCh38]
Chr9:37432071 [GRCh37]
Chr9:9p13.2
benign|uncertain significance
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) single nucleotide variant Primary hyperoxaluria, type II [RCV000350258]|not provided [RCV000906304] Chr9:37429750 [GRCh38]
Chr9:37429747 [GRCh37]
Chr9:9p13.2
benign|likely benign|uncertain significance
NM_012203.2(GRHPR):c.*24G>A single nucleotide variant Primary hyperoxaluria, type II [RCV000356840] Chr9:37436806 [GRCh38]
Chr9:37436803 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) single nucleotide variant Primary hyperoxaluria, type II [RCV000334444]|not provided [RCV000911021] Chr9:37426586 [GRCh38]
Chr9:37426583 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.468C>T (p.Val156=) single nucleotide variant Primary hyperoxaluria, type II [RCV000405730]|not provided [RCV000885870] Chr9:37428547 [GRCh38]
Chr9:37428544 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.*146A>G single nucleotide variant Primary hyperoxaluria, type II [RCV000261886] Chr9:37436928 [GRCh38]
Chr9:37436925 [GRCh37]
Chr9:9p13.2
benign|likely benign
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile) single nucleotide variant Primary hyperoxaluria, type II [RCV000279370] Chr9:37426558 [GRCh38]
Chr9:37426555 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) single nucleotide variant Primary hyperoxaluria, type II [RCV000361622] Chr9:37432085 [GRCh38]
Chr9:37432082 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) single nucleotide variant Primary hyperoxaluria, type II [RCV000365182] Chr9:37430594 [GRCh38]
Chr9:37430591 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) single nucleotide variant Primary hyperoxaluria, type II [RCV000266993]|not provided [RCV000969045] Chr9:37436757 [GRCh38]
Chr9:37436754 [GRCh37]
Chr9:9p13.2
benign|likely benign|uncertain significance
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) single nucleotide variant Primary hyperoxaluria, type II [RCV000282740]|not provided [RCV000912666] Chr9:37422766 [GRCh38]
Chr9:37422763 [GRCh37]
Chr9:9p13.2
benign|uncertain significance
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) single nucleotide variant Primary hyperoxaluria, type II [RCV000319185]|not provided [RCV000896260] Chr9:37425993 [GRCh38]
Chr9:37425990 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) single nucleotide variant Primary hyperoxaluria, type II [RCV001279921] Chr9:37429816 [GRCh38]
Chr9:37429813 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) single nucleotide variant Primary hyperoxaluria, type II [RCV001167414]|not provided [RCV000490104] Chr9:37436750 [GRCh38]
Chr9:37436747 [GRCh37]
Chr9:9p13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) single nucleotide variant Primary hyperoxaluria, type II [RCV000310497] Chr9:37430513 [GRCh38]
Chr9:37430510 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) single nucleotide variant Primary hyperoxaluria, type II [RCV001169808] Chr9:37428566 [GRCh38]
Chr9:37428563 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.515del (p.Leu172fs) deletion Primary hyperoxaluria, type II [RCV000409258] Chr9:37429753 [GRCh38]
Chr9:37429750 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.287+2T>C single nucleotide variant not provided [RCV000722683] Chr9:37425996 [GRCh38]
Chr9:37425993 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) duplication Primary hyperoxaluria, type II [RCV000409413] Chr9:37432027..37432028 [GRCh38]
Chr9:37432024..37432025 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.597del (p.Phe199fs) deletion Primary hyperoxaluria, type II [RCV000409935] Chr9:37429833 [GRCh38]
Chr9:37429830 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.954del (p.Glu320fs) deletion Primary hyperoxaluria, type II [RCV000409992] Chr9:37436749 [GRCh38]
Chr9:37436746 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.214+2T>G single nucleotide variant Primary hyperoxaluria, type II [RCV000410412] Chr9:37424977 [GRCh38]
Chr9:37424974 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.404del (p.Asn135fs) deletion Primary hyperoxaluria, type II [RCV000410867] Chr9:37426653 [GRCh38]
Chr9:37426650 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) deletion Primary hyperoxaluria, type II [RCV000410868] Chr9:37428514..37428515 [GRCh38]
Chr9:37428511..37428512 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.228dup (p.Val77fs) duplication Primary hyperoxaluria, type II [RCV000411412] Chr9:37425932..37425933 [GRCh38]
Chr9:37425929..37425930 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) duplication Primary hyperoxaluria, type II [RCV000411634]|not provided [RCV000797566] Chr9:37428532..37428533 [GRCh38]
Chr9:37428529..37428530 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.154del (p.Ala52fs) deletion Primary hyperoxaluria, type II [RCV000411660]|not provided [RCV001388810] Chr9:37424911 [GRCh38]
Chr9:37424908 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) microsatellite Primary hyperoxaluria, type II [RCV000411789] Chr9:37428516..37428517 [GRCh38]
Chr9:37428513..37428514 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV000412226] Chr9:37426587 [GRCh38]
Chr9:37426584 [GRCh37]
Chr9:9p13.2
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) deletion Primary hyperoxaluria, type II [RCV000664769] Chr9:37424948..37424949 [GRCh38]
Chr9:37424945..37424946 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) deletion Primary hyperoxaluria, type II [RCV000664776] Chr9:37436759..37436760 [GRCh38]
Chr9:37436756..37436757 [GRCh37]
Chr9:9p13.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_012203.2(GRHPR):c.863del (p.Cys288fs) deletion Primary hyperoxaluria, type II [RCV000673051] Chr9:37432136 [GRCh38]
Chr9:37432133 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) single nucleotide variant Primary hyperoxaluria, type II [RCV000673070] Chr9:37422751 [GRCh38]
Chr9:37422748 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.403_404+1del microsatellite Primary hyperoxaluria, type II [RCV000672508] Chr9:37426649..37426651 [GRCh38]
Chr9:37426646..37426648 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.286_287+1del deletion Primary hyperoxaluria, type II [RCV000671380] Chr9:37425992..37425994 [GRCh38]
Chr9:37425989..37425991 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.405-1G>A single nucleotide variant Primary hyperoxaluria, type II [RCV000669610] Chr9:37428483 [GRCh38]
Chr9:37428480 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.599-1G>C single nucleotide variant Primary hyperoxaluria, type II [RCV000671056] Chr9:37430510 [GRCh38]
Chr9:37430507 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.598+1del deletion Primary hyperoxaluria, type II [RCV000673957] Chr9:37429836 [GRCh38]
Chr9:37429833 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.735-2del deletion Primary hyperoxaluria, type II [RCV000673174] Chr9:37432006 [GRCh38]
Chr9:37432003 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) duplication Primary hyperoxaluria, type II [RCV000666154] Chr9:37432055..37432056 [GRCh38]
Chr9:37432052..37432053 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.598+1G>T single nucleotide variant Primary hyperoxaluria, type II [RCV000664698]|not provided [RCV000723226] Chr9:37429837 [GRCh38]
Chr9:37429834 [GRCh37]
Chr9:9p13.2
likely pathogenic|uncertain significance
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) duplication Primary hyperoxaluria, type II [RCV000669152] Chr9:37432121..37432122 [GRCh38]
Chr9:37432118..37432119 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) duplication Primary hyperoxaluria, type II [RCV000673697] Chr9:37436660..37436661 [GRCh38]
Chr9:37436657..37436658 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.214+1G>C single nucleotide variant Primary hyperoxaluria, type II [RCV000667472] Chr9:37424976 [GRCh38]
Chr9:37424973 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.83+51_83+52delinsA indel Primary hyperoxaluria, type II [RCV000671322] Chr9:37422884..37422885 [GRCh38]
Chr9:37422881..37422882 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.83+51G>A single nucleotide variant Primary hyperoxaluria, type II [RCV000671656] Chr9:37422884 [GRCh38]
Chr9:37422881 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV000673330] Chr9:37436753 [GRCh38]
Chr9:37436750 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) single nucleotide variant Primary hyperoxaluria, type II [RCV000666135] Chr9:37436684 [GRCh38]
Chr9:37436681 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.866-2A>G single nucleotide variant Primary hyperoxaluria, type II [RCV000668309] Chr9:37436659 [GRCh38]
Chr9:37436656 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.496del (p.Gln166fs) deletion Primary hyperoxaluria, type II [RCV000665069] Chr9:37429733 [GRCh38]
Chr9:37429730 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) indel Primary hyperoxaluria, type II [RCV000666341]|not provided [RCV000801247] Chr9:37432054..37432055 [GRCh38]
Chr9:37432051..37432052 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
NM_012203.2(GRHPR):c.865+2dup duplication Primary hyperoxaluria, type II [RCV000674915] Chr9:37432139..37432140 [GRCh38]
Chr9:37432136..37432137 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) single nucleotide variant Primary hyperoxaluria, type II [RCV000666459] Chr9:37422752 [GRCh38]
Chr9:37422749 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.215-2_215-1del deletion Primary hyperoxaluria, type II [RCV000666214] Chr9:37425920..37425921 [GRCh38]
Chr9:37425917..37425918 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.214+1G>T single nucleotide variant Primary hyperoxaluria, type II [RCV000666372] Chr9:37424976 [GRCh38]
Chr9:37424973 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) microsatellite Primary hyperoxaluria, type II [RCV000666802] Chr9:37436746..37436747 [GRCh38]
Chr9:37436743..37436744 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) single nucleotide variant Primary hyperoxaluria, type II [RCV000666435] Chr9:37436781 [GRCh38]
Chr9:37436778 [GRCh37]
Chr9:9p13.2
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) deletion Primary hyperoxaluria, type II [RCV000735809]|not provided [RCV001042086] Chr9:37430527..37430581 [GRCh38]
Chr9:37430524..37430578 [GRCh37]
Chr9:9p13.2
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) single nucleotide variant not provided [RCV000979969] Chr9:37426592 [GRCh38]
Chr9:37426589 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.405-8C>T single nucleotide variant not provided [RCV000980655] Chr9:37428476 [GRCh38]
Chr9:37428473 [GRCh37]
Chr9:9p13.2
likely benign
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) single nucleotide variant Primary hyperoxaluria, type II [RCV001167411]|not provided [RCV001355504] Chr9:37430602 [GRCh38]
Chr9:37430599 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.570G>A (p.Glu190=) single nucleotide variant not provided [RCV000943826] Chr9:37429808 [GRCh38]
Chr9:37429805 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.756C>T (p.Asp252=) single nucleotide variant not provided [RCV000945042] Chr9:37432029 [GRCh38]
Chr9:37432026 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) single nucleotide variant Primary hyperoxaluria, type II [RCV001274438]|not provided [RCV000983457] Chr9:37426634 [GRCh38]
Chr9:37426631 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.83+1G>C single nucleotide variant not provided [RCV001044981] Chr9:37422834 [GRCh38]
Chr9:37422831 [GRCh37]
Chr9:9p13.2
likely pathogenic
NC_000009.12:g.(?_37429722)_(37430656_?)del deletion not provided [RCV001032565] Chr9:37429719..37430653 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV000779582]|not provided [RCV001042856] Chr9:37424900 [GRCh38]
Chr9:37424897 [GRCh37]
Chr9:9p13.2
pathogenic|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_012203.2(GRHPR):c.456G>A (p.Thr152=) single nucleotide variant not provided [RCV000930773] Chr9:37428535 [GRCh38]
Chr9:37428532 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.84-4G>A single nucleotide variant Primary hyperoxaluria, type II [RCV001274436]|not provided [RCV000982380] Chr9:37424841 [GRCh38]
Chr9:37424838 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.870T>C (p.Ile290=) single nucleotide variant not provided [RCV000980656] Chr9:37436665 [GRCh38]
Chr9:37436662 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.438G>A (p.Leu146=) single nucleotide variant not provided [RCV000981313] Chr9:37428517 [GRCh38]
Chr9:37428514 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.897C>T (p.His299=) single nucleotide variant not provided [RCV000978345] Chr9:37436692 [GRCh38]
Chr9:37436689 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) single nucleotide variant Primary hyperoxaluria, type II [RCV001169809]|not provided [RCV000961928] Chr9:37429747 [GRCh38]
Chr9:37429744 [GRCh37]
Chr9:9p13.2
benign|likely benign
NM_012203.2(GRHPR):c.552G>A (p.Gly184=) single nucleotide variant not provided [RCV000982095] Chr9:37429790 [GRCh38]
Chr9:37429787 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) single nucleotide variant Primary hyperoxaluria, type II [RCV001165838]|not provided [RCV000941275] Chr9:37430578 [GRCh38]
Chr9:37430575 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) single nucleotide variant Primary hyperoxaluria, type II [RCV001029954] Chr9:37436667 [GRCh38]
Chr9:37436664 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.13C>T (p.Arg5Ter) single nucleotide variant not provided [RCV000804421] Chr9:37422763 [GRCh38]
Chr9:37422760 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.866-9_866-8dup duplication not provided [RCV000975843] Chr9:37436651..37436652 [GRCh38]
Chr9:37436648..37436649 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) microsatellite not provided [RCV000799744] Chr9:37429829..37429830 [GRCh38]
Chr9:37429826..37429827 [GRCh37]
Chr9:9p13.2
pathogenic
NC_000009.12:g.(?_37422741)_(37785054_?)del deletion not provided [RCV000822552] Chr9:37422741..37785054 [GRCh38]
Chr9:37422738..37785051 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.734+1G>A single nucleotide variant not provided [RCV000805272] Chr9:37430647 [GRCh38]
Chr9:37430644 [GRCh37]
Chr9:9p13.2
likely pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) single nucleotide variant Primary hyperoxaluria, type II [RCV001167413] Chr9:37432032 [GRCh38]
Chr9:37432029 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.*132T>C single nucleotide variant Primary hyperoxaluria, type II [RCV001168024] Chr9:37436914 [GRCh38]
Chr9:37436911 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) single nucleotide variant Primary hyperoxaluria, type II [RCV001165835] Chr9:37429789 [GRCh38]
Chr9:37429786 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.156C>G (p.Ala52=) single nucleotide variant Primary hyperoxaluria, type II [RCV001167945] Chr9:37424917 [GRCh38]
Chr9:37424914 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) single nucleotide variant Primary hyperoxaluria, type II [RCV001167946]|not provided [RCV000942675] Chr9:37425962 [GRCh38]
Chr9:37425959 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) single nucleotide variant Primary hyperoxaluria, type II [RCV001167346] Chr9:37424847 [GRCh38]
Chr9:37424844 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) single nucleotide variant Primary hyperoxaluria, type II [RCV001167412]|not provided [RCV001241140] Chr9:37430613 [GRCh38]
Chr9:37430610 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) single nucleotide variant Primary hyperoxaluria, type II [RCV001169810] Chr9:37429781 [GRCh38]
Chr9:37429778 [GRCh37]
Chr9:9p13.2
uncertain significance
GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3 copy number gain not provided [RCV001006238] Chr9:36539229..38787480 [GRCh37]
Chr9:9p13.2-13.1
uncertain significance
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) single nucleotide variant Primary hyperoxaluria, type II [RCV001167948] Chr9:37426546 [GRCh38]
Chr9:37426543 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.554G>A (p.Arg185His) single nucleotide variant Primary hyperoxaluria, type II [RCV001165836] Chr9:37429792 [GRCh38]
Chr9:37429789 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.381G>T (p.Pro127=) single nucleotide variant not provided [RCV000933084] Chr9:37426631 [GRCh38]
Chr9:37426628 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.214+10G>A single nucleotide variant not provided [RCV000903195] Chr9:37424985 [GRCh38]
Chr9:37424982 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.522A>C (p.Pro174=) single nucleotide variant not provided [RCV000978585] Chr9:37429760 [GRCh38]
Chr9:37429757 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.762G>A (p.Leu254=) single nucleotide variant not provided [RCV000940560] Chr9:37432035 [GRCh38]
Chr9:37432032 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) single nucleotide variant not provided [RCV001244319] Chr9:37432015 [GRCh38]
Chr9:37432012 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.288T>C (p.Arg96=) single nucleotide variant not provided [RCV001214516] Chr9:37426538 [GRCh38]
Chr9:37426535 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) single nucleotide variant Primary hyperoxaluria, type II [RCV001169807] Chr9:37426624 [GRCh38]
Chr9:37426621 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) single nucleotide variant Primary hyperoxaluria, type II [RCV001279920]|not provided [RCV001243580] Chr9:37426641 [GRCh38]
Chr9:37426638 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) single nucleotide variant Primary hyperoxaluria, type II [RCV001165837]|not provided [RCV000913271] Chr9:37430578 [GRCh38]
Chr9:37430575 [GRCh37]
Chr9:9p13.2
likely benign|uncertain significance
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) single nucleotide variant Primary hyperoxaluria, type II [RCV001274437]|not provided [RCV000912620] Chr9:37426607 [GRCh38]
Chr9:37426604 [GRCh37]
Chr9:9p13.2
benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) single nucleotide variant Primary hyperoxaluria, type II [RCV001167347] Chr9:37424910 [GRCh38]
Chr9:37424907 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) single nucleotide variant Primary hyperoxaluria, type II [RCV001167947] Chr9:37425972 [GRCh38]
Chr9:37425969 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) single nucleotide variant not provided [RCV001247462] Chr9:37429749 [GRCh38]
Chr9:37429746 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.808G>A (p.Val270Met) single nucleotide variant not provided [RCV001043811] Chr9:37432081 [GRCh38]
Chr9:37432078 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.215-13_215-7del deletion not provided [RCV001235499] Chr9:37425909..37425915 [GRCh38]
Chr9:37425906..37425912 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV001264362] Chr9:37424897 [GRCh38]
Chr9:37424894 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV001264363] Chr9:37426556 [GRCh38]
Chr9:37426553 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) single nucleotide variant Primary hyperoxaluria, type II [RCV001264364] Chr9:37428536 [GRCh38]
Chr9:37428533 [GRCh37]
Chr9:9p13.2
likely pathogenic
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) single nucleotide variant Primary hyperoxaluria, type II [RCV001279916] Chr9:37422764 [GRCh38]
Chr9:37422761 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.252C>A (p.Gly84=) single nucleotide variant Primary hyperoxaluria, type II [RCV001279919] Chr9:37425959 [GRCh38]
Chr9:37425956 [GRCh37]
Chr9:9p13.2
likely benign
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NM_012203.2(GRHPR):c.92_103del (p.Val31_Trp34del) deletion not provided [RCV001326590] Chr9:37424851..37424862 [GRCh38]
Chr9:37424848..37424859 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.63C>T (p.Val21=) single nucleotide variant not provided [RCV001396790] Chr9:37422813 [GRCh38]
Chr9:37422810 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.834A>C (p.Thr278=) single nucleotide variant not provided [RCV001423113] Chr9:37432107 [GRCh38]
Chr9:37432104 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.288-4G>A single nucleotide variant not provided [RCV001422477] Chr9:37426534 [GRCh38]
Chr9:37426531 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) single nucleotide variant Primary hyperoxaluria, type II [RCV001279922] Chr9:37436669 [GRCh38]
Chr9:37436666 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) single nucleotide variant Primary hyperoxaluria, type II [RCV001279917]|not provided [RCV001355033] Chr9:37422784 [GRCh38]
Chr9:37422781 [GRCh37]
Chr9:9p13.2
benign|uncertain significance
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) single nucleotide variant Primary hyperoxaluria, type II [RCV001279918] Chr9:37424869 [GRCh38]
Chr9:37424866 [GRCh37]
Chr9:9p13.2
uncertain significance
NM_012203.2(GRHPR):c.744C>T (p.Val248=) single nucleotide variant not provided [RCV001394929] Chr9:37432017 [GRCh38]
Chr9:37432014 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.846C>G (p.Leu282=) single nucleotide variant not provided [RCV001413296] Chr9:37432119 [GRCh38]
Chr9:37432116 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.361dup (p.Thr121fs) duplication not provided [RCV001388857] Chr9:37426610..37426611 [GRCh38]
Chr9:37426607..37426608 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV001424386] Chr9:37432014 [GRCh38]
Chr9:37432011 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.687C>T (p.Asp229=) single nucleotide variant not provided [RCV001411976] Chr9:37430599 [GRCh38]
Chr9:37430596 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.23_26dup (p.Phe10fs) duplication not provided [RCV001387253] Chr9:37422772..37422773 [GRCh38]
Chr9:37422769..37422770 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.380C>T (p.Pro127Leu) single nucleotide variant not provided [RCV001444047] Chr9:37426630 [GRCh38]
Chr9:37426627 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) single nucleotide variant not provided [RCV001410398] Chr9:37432117 [GRCh38]
Chr9:37432114 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.93G>A (p.Val31=) single nucleotide variant not provided [RCV001431068] Chr9:37424854 [GRCh38]
Chr9:37424851 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.84-5C>T single nucleotide variant not provided [RCV001431554] Chr9:37424840 [GRCh38]
Chr9:37424837 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.347_350delinsACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCTACTTACCA (p.Val116_Ser117delinsAspProArgArgAlaLysThrAlaValTrpArgLeuTrpValTrpGlySerAlaSerLysAlaLeuGlySerProAlaLeuProGlnProCysSerValThrSerSerLysThrLeuProLeuLeuGlyValCysValValTer) indel not provided [RCV001388874] Chr9:37426597..37426600 [GRCh38]
Chr9:37426594..37426597 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.589del (p.Ala197fs) deletion not provided [RCV001381707] Chr9:37429826 [GRCh38]
Chr9:37429823 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV001428383] Chr9:37422777 [GRCh38]
Chr9:37422774 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.141A>C (p.Arg47=) single nucleotide variant not provided [RCV001429726] Chr9:37424902 [GRCh38]
Chr9:37424899 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.486G>A (p.Gly162=) single nucleotide variant not provided [RCV001411483] Chr9:37428565 [GRCh38]
Chr9:37428562 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.405-5C>T single nucleotide variant not provided [RCV001403107] Chr9:37428479 [GRCh38]
Chr9:37428476 [GRCh37]
Chr9:9p13.2
likely benign
NC_000009.11:g.(?_37425909)_(37426661_?)del deletion not provided [RCV001381472] Chr9:37425909..37426661 [GRCh37]
Chr9:9p13.2
pathogenic
NM_012203.2(GRHPR):c.396A>G (p.Glu132=) single nucleotide variant not provided [RCV001418219] Chr9:37426646 [GRCh38]
Chr9:37426643 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.9G>C (p.Pro3=) single nucleotide variant not provided [RCV001404695] Chr9:37422759 [GRCh38]
Chr9:37422756 [GRCh37]
Chr9:9p13.2
likely benign
NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr) single nucleotide variant not provided [RCV001418398] Chr9:37426593 [GRCh38]
Chr9:37426590 [GRCh37]
Chr9:9p13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4570 AgrOrtholog
COSMIC GRHPR COSMIC
Ensembl Genes ENSG00000137106 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000313432 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432021 UniProtKB/Swiss-Prot
  ENSP00000475569 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318158 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000494290 UniProtKB/Swiss-Prot
  ENST00000607784 UniProtKB/TrEMBL
GTEx ENSG00000137106 GTEx
HGNC ID HGNC:4570 ENTREZGENE
Human Proteome Map GRHPR Human Proteome Map
InterPro D-isomer_2_OHA_DH_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  D-isomer_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  D-isomer_DH_NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9380 ENTREZGENE
OMIM 260000 OMIM
  604296 OMIM
Pfam 2-Hacid_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2-Hacid_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28965 PharmGKB
PROSITE D_2_HYDROXYACID_DH_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384N605_HUMAN UniProtKB/TrEMBL
  GRHPR_HUMAN UniProtKB/Swiss-Prot
  Q5M7Z5_HUMAN UniProtKB/TrEMBL
  Q9UBQ7 ENTREZGENE
  U3KQ56_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5T945 UniProtKB/Swiss-Prot
  Q9H3E9 UniProtKB/Swiss-Prot
  Q9H636 UniProtKB/Swiss-Prot
  Q9UKX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 GRHPR  glyoxylate and hydroxypyruvate reductase    glyoxylate reductase/hydroxypyruvate reductase  Symbol and/or name change 5135510 APPROVED
2016-04-05 GRHPR  glyoxylate reductase/hydroxypyruvate reductase  GLYD  glycerate-2-dehydrogenase  Data Merged 737654 PROVISIONAL