PTPRQ (protein tyrosine phosphatase receptor type Q) - Rat Genome Database

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Gene: PTPRQ (protein tyrosine phosphatase receptor type Q) Homo sapiens
Analyze
Symbol: PTPRQ
Name: protein tyrosine phosphatase receptor type Q
RGD ID: 1345897
HGNC Page HGNC
Description: Predicted to enable protein tyrosine phosphatase activity. Involved in regulation of fat cell differentiation. Predicted to be located in collagen-containing extracellular matrix and stereocilium bundle. Predicted to be integral component of membrane. Predicted to be part of receptor complex. Implicated in autosomal dominant nonsyndromic deafness 73 and autosomal recessive nonsyndromic deafness 84A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNA73; DFNB84; DFNB84A; phosphatidylinositol phosphatase PTPRQ; phosphotidylinositol phosphatase PTPRQ; protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells; PTP-RQ; PTPGMC1; R-PTP-Q; receptor-type tyrosine-protein phosphatase Q
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 Ensembl1280,402,178 - 80,680,273 (+)EnsemblGRCh38hg38GRCh38
GRCh381280,424,261 - 80,680,273 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371280,838,015 - 81,074,052 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361279,363,383 - 79,531,770 (+)NCBINCBI36hg18NCBI36
Celera1280,503,778 - 80,740,182 (+)NCBI
Cytogenetic Map12q21.31NCBI
HuRef1277,895,115 - 78,130,849 (+)NCBIHuRef
CHM1_11280,804,585 - 81,040,375 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9727007   PMID:12802008   PMID:12837292   PMID:16341674   PMID:16344560   PMID:19351528   PMID:19888295   PMID:20301607   PMID:20346435   PMID:20379614   PMID:20472657   PMID:21873635  
PMID:23897475   PMID:25557914   PMID:25788564   PMID:25919374   PMID:26851024   PMID:27173435   PMID:28714010   PMID:29309402   PMID:29849575   PMID:31655630   PMID:33035386   PMID:33997018  


Genomics

Comparative Map Data
PTPRQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1280,402,178 - 80,680,273 (+)EnsemblGRCh38hg38GRCh38
GRCh381280,424,261 - 80,680,273 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371280,838,015 - 81,074,052 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361279,363,383 - 79,531,770 (+)NCBINCBI36hg18NCBI36
Celera1280,503,778 - 80,740,182 (+)NCBI
Cytogenetic Map12q21.31NCBI
HuRef1277,895,115 - 78,130,849 (+)NCBIHuRef
CHM1_11280,804,585 - 81,040,375 (+)NCBICHM1_1
Ptprq
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910107,350,224 - 107,555,939 (-)NCBIGRCm39mm39
GRCm39 Ensembl10107,352,910 - 107,555,912 (-)Ensembl
GRCm3810107,514,363 - 107,720,098 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10107,517,049 - 107,720,051 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710106,954,416 - 107,157,083 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610106,921,470 - 107,124,137 (-)NCBImm8
Celera10109,459,813 - 109,656,738 (-)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1055.97NCBI
Ptprq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2742,837,109 - 43,016,917 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl742,837,109 - 43,016,917 (-)Ensembl
Rnor_6.0749,763,657 - 50,034,932 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl749,763,657 - 50,034,932 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0749,939,446 - 50,045,544 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0749,773,565 - 49,852,881 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4746,224,075 - 46,400,107 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1746,244,345 - 46,420,378 (-)NCBI
Celera739,709,561 - 39,889,789 (-)NCBICelera
RH 3.4 Map7352.32RGD
Cytogenetic Map7q21NCBI
Ptprq
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540519,123,905 - 19,318,619 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540519,123,905 - 19,318,619 (+)NCBIChiLan1.0ChiLan1.0
PTPRQ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11281,070,130 - 81,310,857 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1281,068,545 - 81,310,857 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01277,957,758 - 78,200,206 (+)NCBIMhudiblu_PPA_v0panPan3
PTPRQ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11522,771,653 - 23,017,694 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1522,825,348 - 23,013,762 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1523,195,305 - 23,441,460 (+)NCBI
ROS_Cfam_1.01523,131,808 - 23,378,520 (+)NCBI
ROS_Cfam_1.0 Ensembl1523,132,778 - 23,375,811 (+)Ensembl
UMICH_Zoey_3.11522,709,249 - 22,955,886 (+)NCBI
UNSW_CanFamBas_1.01522,768,982 - 23,015,356 (+)NCBI
UU_Cfam_GSD_1.01523,008,878 - 23,255,710 (+)NCBI
Ptprq
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494537,341,524 - 37,539,896 (-)NCBI
SpeTri2.0NW_0049366981,372,604 - 1,569,905 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPRQ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5100,787,027 - 101,033,334 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15100,787,025 - 101,081,145 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25105,794,917 - 105,833,241 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTPRQ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11175,943,793 - 76,154,604 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1175,943,260 - 76,154,083 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037169,282,954 - 169,531,980 (-)NCBIVero_WHO_p1.0
Ptprq
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475017,621,520 - 17,863,902 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH91909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371280,983,211 - 80,983,397UniSTSGRCh37
Build 361279,507,342 - 79,507,528RGDNCBI36
Celera1280,649,423 - 80,649,609RGD
Cytogenetic Map12q21.2UniSTS
HuRef1278,040,168 - 78,040,354UniSTS
GeneMap99-GB4 RH Map12325.24UniSTS
SHGC-85051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,034,197 - 81,034,469UniSTSGRCh37
Build 361279,558,328 - 79,558,600RGDNCBI36
Celera1280,700,411 - 80,700,683RGD
Cytogenetic Map12q21.2UniSTS
HuRef1278,091,154 - 78,091,426UniSTS
TNG Radiation Hybrid Map1238950.0UniSTS
D15S639E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371556,991,617 - 56,991,688UniSTSGRCh37
GRCh371280,926,964 - 80,927,035UniSTSGRCh37
Build 361279,451,095 - 79,451,166RGDNCBI36
Celera1280,593,197 - 80,593,268RGD
Celera1533,880,998 - 33,881,069UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q21.2UniSTS
D12S1813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,007,913 - 81,008,108UniSTSGRCh37
Build 361279,532,044 - 79,532,239RGDNCBI36
Celera1280,674,125 - 80,674,320RGD
Cytogenetic Map12q21.2UniSTS
HuRef1278,064,872 - 78,065,067UniSTS
Stanford-G3 RH Map123221.0UniSTS
NCBI RH Map12559.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:714
Count of miRNA genes:447
Interacting mature miRNAs:481
Transcripts:ENST00000266688, ENST00000526956, ENST00000547376, ENST00000547485, ENST00000547881, ENST00000549355, ENST00000551042, ENST00000551573, ENST00000551624
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 adipose tissue appendage entire extraembryonic component
High
Medium 3 43 1 6 1 7 2 19 12 59 26
Low 477 1143 642 7 68 7 1493 466 679 144 592 1203 1 778 1086 1
Below cutoff 1653 1247 826 428 629 281 2543 1633 2523 64 705 185 153 399 1684 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide ABBA01053496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF169351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM750287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA545412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB305536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB318211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB341961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN831929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW009832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW009898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW009906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG327664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000547376   ⟹   ENSP00000448844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,420,753 - 80,445,524 (+)Ensembl
RefSeq Acc Id: ENST00000547485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,512,642 - 80,539,838 (+)Ensembl
RefSeq Acc Id: ENST00000547881   ⟹   ENSP00000449526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,632,222 - 80,658,051 (+)Ensembl
RefSeq Acc Id: ENST00000549355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,634,670 - 80,652,824 (+)Ensembl
RefSeq Acc Id: ENST00000551042   ⟹   ENSP00000447522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,405,994 - 80,445,717 (+)Ensembl
RefSeq Acc Id: ENST00000551573   ⟹   ENSP00000449133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,420,757 - 80,445,524 (+)Ensembl
RefSeq Acc Id: ENST00000551624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,542,256 - 80,547,123 (+)Ensembl
RefSeq Acc Id: ENST00000616559   ⟹   ENSP00000483259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,435,083 - 80,680,189 (+)Ensembl
RefSeq Acc Id: ENST00000623635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,402,178 - 80,409,550 (+)Ensembl
RefSeq Acc Id: ENST00000644991   ⟹   ENSP00000495607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,444,235 - 80,680,273 (+)Ensembl
RefSeq Acc Id: NM_001145026   ⟹   NP_001138498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,444,235 - 80,680,273 (+)NCBI
GRCh371280,838,126 - 81,073,968 (+)RGD
Celera1280,503,778 - 80,740,182 (+)RGD
HuRef1277,895,115 - 78,130,849 (+)ENTREZGENE
CHM1_11280,804,585 - 81,040,375 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019273   ⟹   XP_016874762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,424,262 - 80,679,259 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019274   ⟹   XP_016874763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,424,261 - 80,680,273 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019275   ⟹   XP_016874764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,424,261 - 80,635,085 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001748688
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,424,261 - 80,658,051 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001748689
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381280,424,261 - 80,648,920 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138498 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874762 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874763 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874764 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD50277 (Get FASTA)   NCBI Sequence Viewer  
  Q9UMZ3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001138498   ⟸   NM_001145026
- Peptide Label: precursor
- UniProtKB: A0A087WZU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874763   ⟸   XM_017019274
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874764   ⟸   XM_017019275
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874762   ⟸   XM_017019273
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000448844   ⟸   ENST00000547376
RefSeq Acc Id: ENSP00000449526   ⟸   ENST00000547881
RefSeq Acc Id: ENSP00000483259   ⟸   ENST00000616559
RefSeq Acc Id: ENSP00000447522   ⟸   ENST00000551042
RefSeq Acc Id: ENSP00000495607   ⟸   ENST00000644991
RefSeq Acc Id: ENSP00000449133   ⟸   ENST00000551573

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145026.2(PTPRQ):c.5901C>T (p.Asp1967=) single nucleotide variant not provided [RCV001608925] Chr12:80635059 [GRCh38]
Chr12:81028838 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) single nucleotide variant Deafness, autosomal recessive 84 [RCV000144416] Chr12:80460707 [GRCh38]
Chr12:80849470 [GRCh37]
Chr12:12q21.31
pathogenic|not provided
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) single nucleotide variant Deafness, autosomal recessive 84 [RCV000144417] Chr12:80460829 [GRCh38]
Chr12:80849348 [GRCh37]
Chr12:12q21.31
pathogenic|not provided
PTPRQ, TYR497TER single nucleotide variant Deafness, autosomal recessive 84 [RCV000006867] Chr12:12q21.2 pathogenic
PTPRQ, ARG457GLY single nucleotide variant Deafness, autosomal recessive 84 [RCV000006868] Chr12:12q21.2 pathogenic
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31
pathogenic
GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1 copy number loss See cases [RCV000051315] Chr12:80266605..85253555 [GRCh38]
Chr12:80660385..85647333 [GRCh37]
Chr12:79184516..84171464 [NCBI36]
Chr12:12q21.31
pathogenic
GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1 copy number loss See cases [RCV000051316] Chr12:80393097..81021534 [GRCh38]
Chr12:80786877..81415313 [GRCh37]
Chr12:79311008..79939444 [NCBI36]
Chr12:12q21.31
pathogenic
GRCh38/hg38 12q21.31(chr12:80530108-80719071)x1 copy number loss See cases [RCV000051317] Chr12:80530108..80719071 [GRCh38]
Chr12:80923887..81112850 [GRCh37]
Chr12:79448018..79636981 [NCBI36]
Chr12:12q21.31
pathogenic
GRCh38/hg38 12q21.31(chr12:80538484-80798086)x1 copy number loss See cases [RCV000051318] Chr12:80538484..80798086 [GRCh38]
Chr12:80932263..81191865 [GRCh37]
Chr12:79456394..79715996 [NCBI36]
Chr12:12q21.31
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 copy number gain See cases [RCV000053684] Chr12:77564757..85370822 [GRCh38]
Chr12:77958537..85764600 [GRCh37]
Chr12:76482668..84288731 [NCBI36]
Chr12:12q21.2-21.31
pathogenic
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) single nucleotide variant Deafness, autosomal dominant 73 [RCV000662062] Chr12:80445713 [GRCh38]
Chr12:80839493 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5686+2T>G single nucleotide variant Deafness, autosomal dominant 73 [RCV001332918] Chr12:80622136 [GRCh38]
Chr12:81015915 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) single nucleotide variant not provided [RCV000427365]|not specified [RCV000202955] Chr12:80445529 [GRCh38]
Chr12:80839309 [GRCh37]
Chr12:12q21.31
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31
likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22
pathogenic
GRCh38/hg38 12q21.31(chr12:80195590-80500002)x1 copy number loss See cases [RCV000142724] Chr12:80195590..80500002 [GRCh38]
Chr12:80589370..80893781 [GRCh37]
Chr12:79113501..79417912 [NCBI36]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12q21.31(chr12:80945046-81113470)x1 copy number loss See cases [RCV000240132] Chr12:80945046..81113470 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3 copy number gain Ductal breast carcinoma [RCV000207319] Chr12:80927874..81503412 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5390-1G>T single nucleotide variant not provided [RCV000379372] Chr12:80620153 [GRCh38]
Chr12:81013932 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.3874-334G>A single nucleotide variant not provided [RCV001575314] Chr12:80546222 [GRCh38]
Chr12:80940001 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3867_3871del (p.Tyr1289_Lys1291delinsTer) deletion not provided [RCV000591656] Chr12:80542871..80542875 [GRCh38]
Chr12:80936650..80936654 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.1(PTPRQ):c.3125A>G (p.Asp1042Gly) single nucleotide variant not specified [RCV000414239] Chr12:80539915 [GRCh38]
Chr12:80933694 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1359+2T>C single nucleotide variant not provided [RCV000733634] Chr12:80484607 [GRCh38]
Chr12:80878386 [GRCh37]
Chr12:12q21.31
pathogenic
GRCh37/hg19 12q21.31(chr12:80902982-81207393)x1 copy number loss See cases [RCV000447661] Chr12:80902982..81207393 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) single nucleotide variant Deafness, autosomal dominant 73 [RCV000505470]|not provided [RCV001268420] Chr12:80679004 [GRCh38]
Chr12:81072783 [GRCh37]
Chr12:12q21.31
pathogenic|uncertain significance
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) single nucleotide variant Deafness, autosomal recessive 84 [RCV000765110]|not provided [RCV000485096] Chr12:80670476 [GRCh38]
Chr12:81064255 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001145026.2(PTPRQ):c.163+5G>A single nucleotide variant not provided [RCV000498139] Chr12:80444854 [GRCh38]
Chr12:80838634 [GRCh37]
Chr12:12q21.31
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) single nucleotide variant Hearing impairment [RCV000626765]|not provided [RCV001090820] Chr12:80670365 [GRCh38]
Chr12:81064144 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.255G>A (p.Arg85=) single nucleotide variant not provided [RCV001718991] Chr12:80445582 [GRCh38]
Chr12:80839362 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.39G>C (p.Gly13=) single nucleotide variant not provided [RCV000615444] Chr12:80444384 [GRCh38]
Chr12:80838164 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1187-24TTTC[6] microsatellite not provided [RCV001712666] Chr12:80484408..80484409 [GRCh38]
Chr12:80878187..80878188 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.50C>T (p.Thr17Ile) single nucleotide variant not provided [RCV000992735]|not specified [RCV000616432] Chr12:80444395 [GRCh38]
Chr12:80838175 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.98C>T (p.Thr33Ile) single nucleotide variant not provided [RCV000992737]|not specified [RCV000608221] Chr12:80444784 [GRCh38]
Chr12:80838564 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1292G>A (p.Arg431Gln) single nucleotide variant not provided [RCV000992725]|not specified [RCV000614507] Chr12:80484538 [GRCh38]
Chr12:80878317 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) single nucleotide variant not provided [RCV000992724] Chr12:80484531 [GRCh38]
Chr12:80878310 [GRCh37]
Chr12:12q21.31
benign|likely benign
GRCh37/hg19 12q21.31(chr12:80622857-81449637)x3 copy number gain See cases [RCV000512357] Chr12:80622857..81449637 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) microsatellite Deafness [RCV000679835]|Deafness, autosomal recessive [RCV001291238] Chr12:80613829..80613830 [GRCh38]
Chr12:81007608..81007609 [GRCh37]
Chr12:12q21.31
pathogenic|likely pathogenic
NM_001145026.2(PTPRQ):c.6739-1G>A single nucleotide variant Deafness [RCV000679834]|Deafness, autosomal recessive [RCV001291239] Chr12:80678601 [GRCh38]
Chr12:81072380 [GRCh37]
Chr12:12q21.31
pathogenic|likely pathogenic
NM_001145026.2(PTPRQ):c.5075T>C (p.Ile1692Thr) single nucleotide variant not provided [RCV000712880] Chr12:80613748 [GRCh38]
Chr12:81007527 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6263G>A (p.Arg2088Lys) single nucleotide variant not provided [RCV000712881] Chr12:80669077 [GRCh38]
Chr12:81062856 [GRCh37]
Chr12:12q21.31
benign
NC_000012.11:g.(?_80128594)_(81102759_?)del deletion Myopathy, centronuclear, 3 [RCV000708058] Chr12:80128594..81102759 [GRCh37]
Chr12:12q21.2-21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1187-24TTTC[4] microsatellite not provided [RCV001566837] Chr12:80484409..80484412 [GRCh38]
Chr12:80878188..80878191 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3890A>G (p.Lys1297Arg) single nucleotide variant not provided [RCV001732492] Chr12:80546572 [GRCh38]
Chr12:80940351 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33
pathogenic
GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1 copy number loss not provided [RCV000737957] Chr12:80883788..81175910 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.4285+10_4285+27del deletion not provided [RCV001644465] Chr12:80549727..80549744 [GRCh38]
Chr12:80943506..80943523 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5231-115A>G single nucleotide variant not provided [RCV001667292] Chr12:80619269 [GRCh38]
Chr12:81013048 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1040-318C>T single nucleotide variant not provided [RCV001692516] Chr12:80471787 [GRCh38]
Chr12:80865566 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6603-294del deletion not provided [RCV001691212] Chr12:80672869 [GRCh38]
Chr12:81066648 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.911-25T>C single nucleotide variant not provided [RCV001681273] Chr12:80468685 [GRCh38]
Chr12:80862464 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4285+67C>T single nucleotide variant not provided [RCV001708936] Chr12:80549801 [GRCh38]
Chr12:80943580 [GRCh37]
Chr12:12q21.31
benign
Single allele single nucleotide variant not provided [RCV001571480] Chr12:80444141 [GRCh38]
Chr12:80837921 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6024+2T>C single nucleotide variant Deafness, autosomal dominant 73 [RCV001542772] Chr12:80649671 [GRCh38]
Chr12:81043450 [GRCh37]
Chr12:12q21.31
likely pathogenic
NM_001145026.2(PTPRQ):c.5787-332A>G single nucleotide variant not provided [RCV001645075] Chr12:80634613 [GRCh38]
Chr12:81028392 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6115+23_6115+24dup duplication not provided [RCV001535004] Chr12:80652856..80652857 [GRCh38]
Chr12:81046635..81046636 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4731+52C>T single nucleotide variant not provided [RCV001566133] Chr12:80605232 [GRCh38]
Chr12:80999011 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.4666A>C (p.Ser1556Arg) single nucleotide variant not provided [RCV001566692] Chr12:80605115 [GRCh38]
Chr12:80998894 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5612+203G>A single nucleotide variant not provided [RCV001681947] Chr12:80620579 [GRCh38]
Chr12:81014358 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5943-199C>T single nucleotide variant not provided [RCV001576764] Chr12:80649389 [GRCh38]
Chr12:81043168 [GRCh37]
Chr12:12q21.31
likely benign
Single allele single nucleotide variant not provided [RCV001577221] Chr12:80444137 [GRCh38]
Chr12:80837917 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.*78T>A single nucleotide variant not provided [RCV001551230] Chr12:80679101 [GRCh38]
Chr12:81072880 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5164-120TA[7] microsatellite not provided [RCV001680631] Chr12:80616080..80616081 [GRCh38]
Chr12:81009859..81009860 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2445A>G (p.Gln815=) single nucleotide variant not provided [RCV001581858] Chr12:80506196 [GRCh38]
Chr12:80899975 [GRCh37]
Chr12:12q21.31
likely benign
Single allele single nucleotide variant not provided [RCV001609176] Chr12:80444099 [GRCh38]
Chr12:80837879 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1104A>G (p.Thr368=) single nucleotide variant not provided [RCV000992723] Chr12:80472169 [GRCh38]
Chr12:80865948 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3232G>C (p.Ala1078Pro) single nucleotide variant not provided [RCV000992730] Chr12:80541632 [GRCh38]
Chr12:80935411 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5191G>A (p.Gly1731Ser) single nucleotide variant not provided [RCV000992736] Chr12:80616227 [GRCh38]
Chr12:81010006 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5389+218T>G single nucleotide variant not provided [RCV001612420] Chr12:80619760 [GRCh38]
Chr12:81013539 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4285+156A>G single nucleotide variant not provided [RCV001609905] Chr12:80549890 [GRCh38]
Chr12:80943669 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4919-59G>A single nucleotide variant not provided [RCV001576186] Chr12:80613533 [GRCh38]
Chr12:81007312 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6192+147T>C single nucleotide variant not provided [RCV001725408] Chr12:80658208 [GRCh38]
Chr12:81051987 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5612+284T>C single nucleotide variant not provided [RCV001571148] Chr12:80620660 [GRCh38]
Chr12:81014439 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6327+1G>A single nucleotide variant Sensorineural hearing loss [RCV000856693] Chr12:80669142 [GRCh38]
Chr12:81062921 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.189C>T (p.Ala63=) single nucleotide variant not provided [RCV000841210] Chr12:80445516 [GRCh38]
Chr12:80839296 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) deletion Hearing impairment [RCV001375077]|not provided [RCV000828465] Chr12:80444831..80444842 [GRCh38]
Chr12:80838611..80838622 [GRCh37]
Chr12:12q21.31
benign|likely benign
NM_001145026.2(PTPRQ):c.4475A>G (p.Tyr1492Cys) single nucleotide variant not provided [RCV000992731] Chr12:80588318 [GRCh38]
Chr12:80982097 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) single nucleotide variant Deafness, autosomal recessive 84 [RCV000988875]|not provided [RCV000842693]|not specified [RCV001528601] Chr12:80496050 [GRCh38]
Chr12:80889829 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2272+15_2272+16insG insertion not provided [RCV000842694] Chr12:80496546..80496547 [GRCh38]
Chr12:80890325..80890326 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.54+8G>A single nucleotide variant not provided [RCV000840092] Chr12:80444407 [GRCh38]
Chr12:80838187 [GRCh37]
Chr12:12q21.31
likely benign|conflicting interpretations of pathogenicity
NM_001145026.2(PTPRQ):c.911-20A>T single nucleotide variant not provided [RCV000830830] Chr12:80468690 [GRCh38]
Chr12:80862469 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.286G>A (p.Val96Ile) single nucleotide variant not provided [RCV000842160] Chr12:80445613 [GRCh38]
Chr12:80839393 [GRCh37]
Chr12:12q21.31
benign|likely benign
NM_001145026.2(PTPRQ):c.4758C>A (p.Ser1586=) single nucleotide variant not provided [RCV000992733] Chr12:80610465 [GRCh38]
Chr12:81004244 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) single nucleotide variant not provided [RCV000992734] Chr12:80613734 [GRCh38]
Chr12:81007513 [GRCh37]
Chr12:12q21.31
benign|likely benign
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) single nucleotide variant not provided [RCV000838369] Chr12:80484479 [GRCh38]
Chr12:80878258 [GRCh37]
Chr12:12q21.31
benign|likely benign
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=) single nucleotide variant not provided [RCV000992726] Chr12:80495199 [GRCh38]
Chr12:80888978 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4689T>C (p.Ala1563=) single nucleotide variant not provided [RCV000992732] Chr12:80605138 [GRCh38]
Chr12:80998917 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3040A>G (p.Ile1014Val) single nucleotide variant not provided [RCV000992729] Chr12:80539830 [GRCh38]
Chr12:80933609 [GRCh37]
Chr12:12q21.31
benign
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22
pathogenic
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) single nucleotide variant Deafness, autosomal recessive 84 [RCV001250122] Chr12:80546688 [GRCh38]
Chr12:80940467 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.2034C>T (p.Thr678=) single nucleotide variant not provided [RCV001575946] Chr12:80496293 [GRCh38]
Chr12:80890072 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6165G>A (p.Ser2055=) single nucleotide variant not provided [RCV001564346] Chr12:80658034 [GRCh38]
Chr12:81051813 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2558-225A>T single nucleotide variant not provided [RCV001545103] Chr12:80510098 [GRCh38]
Chr12:80903877 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2557+275G>A single nucleotide variant not provided [RCV001576807] Chr12:80506945 [GRCh38]
Chr12:80900724 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6147C>T (p.Asp2049=) single nucleotide variant not provided [RCV001569614] Chr12:80658016 [GRCh38]
Chr12:81051795 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5687-6del deletion not provided [RCV001566968] Chr12:80632186 [GRCh38]
Chr12:81025965 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1883-248C>T single nucleotide variant not provided [RCV001570945] Chr12:80495751 [GRCh38]
Chr12:80889530 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1541-181C>T single nucleotide variant not provided [RCV001567574] Chr12:80494752 [GRCh38]
Chr12:80888531 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5164-121_5164-118del deletion not provided [RCV001553012] Chr12:80616078..80616081 [GRCh38]
Chr12:81009857..81009860 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1187-245G>A single nucleotide variant not provided [RCV001684204] Chr12:80484188 [GRCh38]
Chr12:80877967 [GRCh37]
Chr12:12q21.31
benign
Single allele insertion not provided [RCV001695023] Chr12:80444130..80444131 [GRCh38]
Chr12:80837910..80837911 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5613-26T>C single nucleotide variant not provided [RCV001549630] Chr12:80622035 [GRCh38]
Chr12:81015814 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6454-185T>G single nucleotide variant not provided [RCV001695402] Chr12:80670159 [GRCh38]
Chr12:81063938 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.937G>A (p.Val313Ile) single nucleotide variant not provided [RCV001658761] Chr12:80468736 [GRCh38]
Chr12:80862515 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1039+105C>T single nucleotide variant not provided [RCV001720891] Chr12:80468943 [GRCh38]
Chr12:80862722 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.*179A>C single nucleotide variant not provided [RCV001659598] Chr12:80679202 [GRCh38]
Chr12:81072981 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1360-77T>G single nucleotide variant not provided [RCV001637715] Chr12:80493198 [GRCh38]
Chr12:80886977 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.163+161A>G single nucleotide variant not provided [RCV001651540] Chr12:80445010 [GRCh38]
Chr12:80838790 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.460+29G>A single nucleotide variant not provided [RCV001698932] Chr12:80457673 [GRCh38]
Chr12:80852504 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1145C>G (p.Thr382Ser) single nucleotide variant not provided [RCV001687019] Chr12:80472210 [GRCh38]
Chr12:80865989 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4207G>A (p.Val1403Ile) single nucleotide variant not provided [RCV001720363] Chr12:80549656 [GRCh38]
Chr12:80943435 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.163+256A>G single nucleotide variant not provided [RCV001612413] Chr12:80445105 [GRCh38]
Chr12:80838885 [GRCh37]
Chr12:12q21.31
benign
Single allele insertion not provided [RCV001589473] Chr12:80444133..80444134 [GRCh38]
Chr12:80837913..80837914 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.4015+133C>T single nucleotide variant not provided [RCV001610858] Chr12:80546830 [GRCh38]
Chr12:80940609 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5613-97G>T single nucleotide variant not provided [RCV001598846] Chr12:80621964 [GRCh38]
Chr12:81015743 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1039+245T>G single nucleotide variant not provided [RCV001709128] Chr12:80469083 [GRCh38]
Chr12:80862862 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.164-140T>C single nucleotide variant not provided [RCV001586168] Chr12:80445351 [GRCh38]
Chr12:80839131 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5389+161TAAA[2] microsatellite not provided [RCV001569374] Chr12:80619703..80619706 [GRCh38]
Chr12:81013482..81013485 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.4287T>G (p.Val1429=) single nucleotide variant not provided [RCV001576983] Chr12:80588130 [GRCh38]
Chr12:80981909 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5943-217dup duplication not provided [RCV001561970] Chr12:80649365..80649366 [GRCh38]
Chr12:81043144..81043145 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3616T>G (p.Leu1206Val) single nucleotide variant not provided [RCV001723499] Chr12:80542259 [GRCh38]
Chr12:80936038 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5163+289A>T single nucleotide variant not provided [RCV001639521] Chr12:80614125 [GRCh38]
Chr12:81007904 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2985+190AC[9] microsatellite not provided [RCV001646005] Chr12:80535227..80535228 [GRCh38]
Chr12:80929006..80929007 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6025-125T>A single nucleotide variant not provided [RCV001691334] Chr12:80652619 [GRCh38]
Chr12:81046398 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4016-209G>A single nucleotide variant not provided [RCV001557087] Chr12:80549256 [GRCh38]
Chr12:80943035 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.4152T>C (p.Val1384=) single nucleotide variant not provided [RCV001562291] Chr12:80549601 [GRCh38]
Chr12:80943380 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1701A>G (p.Gln567=) single nucleotide variant not provided [RCV001562343] Chr12:80495093 [GRCh38]
Chr12:80888872 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6863-125_6863-113del deletion not provided [RCV001669557] Chr12:80678860..80678872 [GRCh38]
Chr12:81072639..81072651 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6192+58T>C single nucleotide variant not provided [RCV001586470] Chr12:80658119 [GRCh38]
Chr12:81051898 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2558-226dup duplication not provided [RCV001570136] Chr12:80510096..80510097 [GRCh38]
Chr12:80903875..80903876 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.164-51A>T single nucleotide variant not provided [RCV001689407] Chr12:80445440 [GRCh38]
Chr12:80839220 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2273-118G>A single nucleotide variant not provided [RCV001676609] Chr12:80505906 [GRCh38]
Chr12:80899685 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6327+97G>T single nucleotide variant not provided [RCV001639921] Chr12:80669238 [GRCh38]
Chr12:81063017 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1882+289T>C single nucleotide variant not provided [RCV001640009] Chr12:80495660 [GRCh38]
Chr12:80889439 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5928T>C (p.Tyr1976=) single nucleotide variant not provided [RCV001557841] Chr12:80648909 [GRCh38]
Chr12:81042688 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1359+283T>G single nucleotide variant not provided [RCV001563213] Chr12:80484888 [GRCh38]
Chr12:80878667 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5231-275G>A single nucleotide variant not provided [RCV001710739] Chr12:80619109 [GRCh38]
Chr12:81012888 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3874-313C>T single nucleotide variant not provided [RCV001589869] Chr12:80546243 [GRCh38]
Chr12:80940022 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.4870G>T (p.Val1624Leu) single nucleotide variant not provided [RCV001644085] Chr12:80610577 [GRCh38]
Chr12:81004356 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2679-259T>C single nucleotide variant not provided [RCV001653387] Chr12:80533756 [GRCh38]
Chr12:80927535 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2557+148T>A single nucleotide variant not provided [RCV001559466] Chr12:80506818 [GRCh38]
Chr12:80900597 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5687-264C>T single nucleotide variant not provided [RCV001594723] Chr12:80631928 [GRCh38]
Chr12:81025707 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6116-140A>G single nucleotide variant not provided [RCV001708298] Chr12:80657845 [GRCh38]
Chr12:81051624 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.163+257C>T single nucleotide variant not provided [RCV001566792] Chr12:80445106 [GRCh38]
Chr12:80838886 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3874-104A>G single nucleotide variant not provided [RCV001615017] Chr12:80546452 [GRCh38]
Chr12:80940231 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1187-262T>A single nucleotide variant not provided [RCV001654987] Chr12:80484171 [GRCh38]
Chr12:80877950 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3154+199G>A single nucleotide variant not provided [RCV001621346] Chr12:80540143 [GRCh38]
Chr12:80933922 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2125T>C (p.Leu709=) single nucleotide variant not provided [RCV000992727] Chr12:80496384 [GRCh38]
Chr12:80890163 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2489T>C (p.Val830Ala) single nucleotide variant not provided [RCV000992728] Chr12:80506602 [GRCh38]
Chr12:80900381 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1443G>A (p.Ser481=) single nucleotide variant not provided [RCV001561752] Chr12:80493358 [GRCh38]
Chr12:80887137 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2840-184_2840-175del deletion not provided [RCV001571881] Chr12:80534705..80534714 [GRCh38]
Chr12:80928484..80928493 [GRCh37]
Chr12:12q21.31
likely benign
Single allele single nucleotide variant not provided [RCV001720926] Chr12:80444232 [GRCh38]
Chr12:80838012 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6193-328A>G single nucleotide variant not provided [RCV001720935] Chr12:80668679 [GRCh38]
Chr12:81062458 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2327T>C (p.Ile776Thr) single nucleotide variant not provided [RCV001557021] Chr12:80506078 [GRCh38]
Chr12:80899857 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6024+163G>A single nucleotide variant not provided [RCV001545457] Chr12:80649832 [GRCh38]
Chr12:81043611 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.163+87T>C single nucleotide variant not provided [RCV001562612] Chr12:80444936 [GRCh38]
Chr12:80838716 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3154+161G>A single nucleotide variant not provided [RCV001567655] Chr12:80540105 [GRCh38]
Chr12:80933884 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.911-130A>T single nucleotide variant not provided [RCV001557568] Chr12:80468580 [GRCh38]
Chr12:80862359 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2847C>T (p.Ser949=) single nucleotide variant not provided [RCV001558017] Chr12:80534899 [GRCh38]
Chr12:80928678 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6452_6453+2del deletion Deafness, autosomal recessive 84 [RCV000988876] Chr12:80669463..80669466 [GRCh38]
Chr12:81063242..81063245 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.3726G>A (p.Pro1242=) single nucleotide variant not provided [RCV001552069] Chr12:80542734 [GRCh38]
Chr12:80936513 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5164-105_5164-104dup duplication not provided [RCV001558249] Chr12:80616094..80616095 [GRCh38]
Chr12:81009873..81009874 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2547G>A (p.Thr849=) single nucleotide variant not provided [RCV001558273] Chr12:80506660 [GRCh38]
Chr12:80900439 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.-1G>A single nucleotide variant not provided [RCV000994951] Chr12:80444345 [GRCh38]
Chr12:80838125 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.4016-9T>C single nucleotide variant not provided [RCV001552882] Chr12:80549456 [GRCh38]
Chr12:80943235 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV001665420] Chr12:80493340 [GRCh38]
Chr12:80887119 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6192+130G>A single nucleotide variant not provided [RCV001678142] Chr12:80658191 [GRCh38]
Chr12:81051970 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5814C>T (p.Gly1938=) single nucleotide variant not provided [RCV001549544] Chr12:80634972 [GRCh38]
Chr12:81028751 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5163+256A>G single nucleotide variant not provided [RCV001553473] Chr12:80614092 [GRCh38]
Chr12:81007871 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1651A>G (p.Ile551Val) single nucleotide variant not provided [RCV001553537] Chr12:80495043 [GRCh38]
Chr12:80888822 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1883-98C>T single nucleotide variant not provided [RCV001560221] Chr12:80495901 [GRCh38]
Chr12:80889680 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2456-56C>T single nucleotide variant not provided [RCV001555219] Chr12:80506513 [GRCh38]
Chr12:80900292 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) single nucleotide variant not provided [RCV001555267] Chr12:80495336 [GRCh38]
Chr12:80889115 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5230+253A>C single nucleotide variant not provided [RCV001555560] Chr12:80616519 [GRCh38]
Chr12:81010298 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3446-5dup duplication not provided [RCV001560778] Chr12:80542080..80542081 [GRCh38]
Chr12:80935859..80935860 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2273-21C>A single nucleotide variant not provided [RCV001550735] Chr12:80506003 [GRCh38]
Chr12:80899782 [GRCh37]
Chr12:12q21.31
likely benign
GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1 copy number loss not provided [RCV001006516] Chr12:79302790..82128250 [GRCh37]
Chr12:12q21.2-21.31
uncertain significance
NM_001145026.2(PTPRQ):c.2206_2216delinsC (p.Ser736fs) indel not provided [RCV001009252] Chr12:80496465..80496475 [GRCh38]
Chr12:80890244..80890254 [GRCh37]
Chr12:12q21.31
likely pathogenic
NM_001145026.2(PTPRQ):c.1883-166G>A single nucleotide variant not provided [RCV001684564] Chr12:80495833 [GRCh38]
Chr12:80889612 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4218A>C (p.Val1406=) single nucleotide variant not provided [RCV001596638] Chr12:80549667 [GRCh38]
Chr12:80943446 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3155-34A>T single nucleotide variant not provided [RCV001677185] Chr12:80541521 [GRCh38]
Chr12:80935300 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4918+139T>C single nucleotide variant not provided [RCV001636516] Chr12:80610764 [GRCh38]
Chr12:81004543 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5613-17del deletion not provided [RCV001674460] Chr12:80622044 [GRCh38]
Chr12:81015823 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5687G>C (p.Gly1896Ala) single nucleotide variant not provided [RCV001651950] Chr12:80632192 [GRCh38]
Chr12:81025971 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6487T>C (p.Phe2163Leu) single nucleotide variant not provided [RCV001723295] Chr12:80670377 [GRCh38]
Chr12:81064156 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1921G>A (p.Ala641Thr) single nucleotide variant not provided [RCV001592732] Chr12:80496037 [GRCh38]
Chr12:80889816 [GRCh37]
Chr12:12q21.31
uncertain significance
Single allele single nucleotide variant not provided [RCV001656167] Chr12:80444134 [GRCh38]
Chr12:80837914 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1560del (p.Gln519_Tyr520insTer) deletion not provided [RCV001723461] Chr12:80494952 [GRCh38]
Chr12:80888731 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) single nucleotide variant not provided [RCV001723462] Chr12:80670446 [GRCh38]
Chr12:81064225 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.3154+11A>G single nucleotide variant not provided [RCV001696387] Chr12:80539955 [GRCh38]
Chr12:80933734 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser) single nucleotide variant not provided [RCV001590558] Chr12:80670458 [GRCh38]
Chr12:81064237 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1702+4A>T single nucleotide variant not provided [RCV001653061] Chr12:80495098 [GRCh38]
Chr12:80888877 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3260A>G (p.Tyr1087Cys) single nucleotide variant not provided [RCV001655345] Chr12:80541660 [GRCh38]
Chr12:80935439 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5230+265C>A single nucleotide variant not provided [RCV001594141] Chr12:80616531 [GRCh38]
Chr12:81010310 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1360-268C>T single nucleotide variant not provided [RCV001640836] Chr12:80493007 [GRCh38]
Chr12:80886786 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6193-65A>T single nucleotide variant not provided [RCV001715215] Chr12:80668942 [GRCh38]
Chr12:81062721 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.55-163_55-162insGATAT microsatellite not provided [RCV001688538] Chr12:80444574..80444575 [GRCh38]
Chr12:80838354..80838355 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5943-264A>T single nucleotide variant not provided [RCV001673268] Chr12:80649324 [GRCh38]
Chr12:81043103 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3186C>T (p.Tyr1062=) single nucleotide variant not provided [RCV001688958] Chr12:80541586 [GRCh38]
Chr12:80935365 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3721+147dup duplication not provided [RCV001658452] Chr12:80542502..80542503 [GRCh38]
Chr12:80936281..80936282 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1040-139A>G single nucleotide variant not provided [RCV001598380] Chr12:80471966 [GRCh38]
Chr12:80865745 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5612+119G>A single nucleotide variant not provided [RCV001637796] Chr12:80620495 [GRCh38]
Chr12:81014274 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6363G>T (p.Lys2121Asn) single nucleotide variant not provided [RCV001620802] Chr12:80669374 [GRCh38]
Chr12:81063153 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2557+46C>T single nucleotide variant not provided [RCV001596296] Chr12:80506716 [GRCh38]
Chr12:80900495 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3873+175A>G single nucleotide variant not provided [RCV001613934] Chr12:80543056 [GRCh38]
Chr12:80936835 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.510A>T (p.Ala170=) single nucleotide variant not provided [RCV001670058] Chr12:80459333 [GRCh38]
Chr12:80850844 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2273-82T>C single nucleotide variant not provided [RCV001595270] Chr12:80505942 [GRCh38]
Chr12:80899721 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5164-121T>A single nucleotide variant not provided [RCV001575081] Chr12:80616079 [GRCh38]
Chr12:81009858 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1040-44C>T single nucleotide variant not provided [RCV001588472] Chr12:80472061 [GRCh38]
Chr12:80865840 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6193-271C>G single nucleotide variant not provided [RCV001665692] Chr12:80668736 [GRCh38]
Chr12:81062515 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1882+16TTG[7] microsatellite not provided [RCV001645738] Chr12:80495386..80495387 [GRCh38]
Chr12:80889165..80889166 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2985+130C>T single nucleotide variant not provided [RCV001645749] Chr12:80535167 [GRCh38]
Chr12:80928946 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.857C>T (p.Ala286Val) single nucleotide variant not provided [RCV001685834] Chr12:80460849 [GRCh38]
Chr12:80849328 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6603-97A>G single nucleotide variant not provided [RCV001684345] Chr12:80673072 [GRCh38]
Chr12:81066851 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2986-90G>A single nucleotide variant not provided [RCV001644320] Chr12:80539686 [GRCh38]
Chr12:80933465 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2455+83A>G single nucleotide variant not provided [RCV001583017] Chr12:80506289 [GRCh38]
Chr12:80900068 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5164-71AT[8] microsatellite not provided [RCV001611025] Chr12:80616128..80616129 [GRCh38]
Chr12:81009907..81009908 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.390+328C>G single nucleotide variant not provided [RCV001669193] Chr12:80446045 [GRCh38]
Chr12:80839825 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3155-315C>T single nucleotide variant not provided [RCV001671135] Chr12:80541240 [GRCh38]
Chr12:80935019 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2455+73T>C single nucleotide variant not provided [RCV001695246] Chr12:80506279 [GRCh38]
Chr12:80900058 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1541-229G>A single nucleotide variant not provided [RCV001589543] Chr12:80494704 [GRCh38]
Chr12:80888483 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2840-114T>A single nucleotide variant not provided [RCV001616041] Chr12:80534778 [GRCh38]
Chr12:80928557 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1968C>A (p.Ile656=) single nucleotide variant not provided [RCV001667818] Chr12:80496084 [GRCh38]
Chr12:80889863 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6115+236T>C single nucleotide variant not provided [RCV001612170] Chr12:80653070 [GRCh38]
Chr12:81046849 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5164-58T>C single nucleotide variant not provided [RCV001615441] Chr12:80616142 [GRCh38]
Chr12:81009921 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2993C>T (p.Thr998Ile) single nucleotide variant not provided [RCV001615532] Chr12:80539783 [GRCh38]
Chr12:80933562 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1541-11A>G single nucleotide variant not provided [RCV001680086] Chr12:80494922 [GRCh38]
Chr12:80888701 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1882+173C>T single nucleotide variant not provided [RCV001648114] Chr12:80495544 [GRCh38]
Chr12:80889323 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) single nucleotide variant Deafness, autosomal dominant 73 [RCV001706955] Chr12:80620370 [GRCh38]
Chr12:81014149 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5196A>C (p.Pro1732=) single nucleotide variant not provided [RCV001707227] Chr12:80616232 [GRCh38]
Chr12:81010011 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3148C>A (p.Gln1050Lys) single nucleotide variant not provided [RCV001665378] Chr12:80539938 [GRCh38]
Chr12:80933717 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.4629A>C (p.Glu1543Asp) single nucleotide variant not provided [RCV001583433] Chr12:80605078 [GRCh38]
Chr12:80998857 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5163+84A>G single nucleotide variant not provided [RCV001693390] Chr12:80613920 [GRCh38]
Chr12:81007699 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5230+72T>G single nucleotide variant not provided [RCV001580937] Chr12:80616338 [GRCh38]
Chr12:81010117 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5942+282C>G single nucleotide variant not provided [RCV001679191] Chr12:80649205 [GRCh38]
Chr12:81042984 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6025-250G>C single nucleotide variant not provided [RCV001692727] Chr12:80652494 [GRCh38]
Chr12:81046273 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5786+235A>G single nucleotide variant not provided [RCV001645079] Chr12:80632526 [GRCh38]
Chr12:81026305 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2557+121C>T single nucleotide variant not provided [RCV001564908] Chr12:80506791 [GRCh38]
Chr12:80900570 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2272+117A>G single nucleotide variant not provided [RCV001708985] Chr12:80496648 [GRCh38]
Chr12:80890427 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1991-20_1991-13dup duplication not provided [RCV001682315] Chr12:80496229..80496230 [GRCh38]
Chr12:80890008..80890009 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.54+7C>T single nucleotide variant not provided [RCV001565970] Chr12:80444406 [GRCh38]
Chr12:80838186 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1541-45A>G single nucleotide variant not provided [RCV001612711] Chr12:80494888 [GRCh38]
Chr12:80888667 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5164-292C>T single nucleotide variant not provided [RCV001682389] Chr12:80615908 [GRCh38]
Chr12:81009687 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.391-663A>G single nucleotide variant not provided [RCV001696303] Chr12:80456912 [GRCh38]
Chr12:80853265 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) single nucleotide variant not provided [RCV001574136] Chr12:80542250 [GRCh38]
Chr12:80936029 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2986-65T>A single nucleotide variant not provided [RCV001582262] Chr12:80539711 [GRCh38]
Chr12:80933490 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6602+308T>C single nucleotide variant not provided [RCV001583900] Chr12:80670800 [GRCh38]
Chr12:81064579 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.5393A>C (p.Gln1798Pro) single nucleotide variant not provided [RCV001709208] Chr12:80620157 [GRCh38]
Chr12:81013936 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3154+62A>C single nucleotide variant not provided [RCV001614848] Chr12:80540006 [GRCh38]
Chr12:80933785 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2703T>C (p.Ile901=) single nucleotide variant not provided [RCV001572350] Chr12:80534039 [GRCh38]
Chr12:80927818 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.391-156G>A single nucleotide variant not provided [RCV001644111] Chr12:80457419 [GRCh38]
Chr12:80852758 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6631A>G (p.Ile2211Val) single nucleotide variant not provided [RCV001652419] Chr12:80673197 [GRCh38]
Chr12:81066976 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6738+255C>A single nucleotide variant not provided [RCV001696702] Chr12:80673559 [GRCh38]
Chr12:81067338 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5164-121_5164-120del deletion not provided [RCV001581060] Chr12:80616077..80616078 [GRCh38]
Chr12:81009856..81009857 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) single nucleotide variant not provided [RCV001581184] Chr12:80670416 [GRCh38]
Chr12:81064195 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1187-158G>A single nucleotide variant not provided [RCV001641822] Chr12:80484275 [GRCh38]
Chr12:80878054 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1040-299T>C single nucleotide variant not provided [RCV001641560] Chr12:80471806 [GRCh38]
Chr12:80865585 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6025-284T>C single nucleotide variant not provided [RCV001663011] Chr12:80652460 [GRCh38]
Chr12:81046239 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile) single nucleotide variant Deafness, autosomal dominant 73 [RCV001262191] Chr12:80444348 [GRCh38]
Chr12:80838128 [GRCh37]
Chr12:12q21.31
likely pathogenic
NM_001145026.2(PTPRQ):c.1186+18del deletion not provided [RCV001536381] Chr12:80472269 [GRCh38]
Chr12:80866048 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3166T>C (p.Phe1056Leu) single nucleotide variant not provided [RCV001619937]|not specified [RCV001530077] Chr12:80541566 [GRCh38]
Chr12:80935345 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn) single nucleotide variant Hearing impairment [RCV001375242] Chr12:80472198 [GRCh38]
Chr12:80865977 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5726C>T (p.Ser1909Phe) single nucleotide variant not provided [RCV001357442] Chr12:80632231 [GRCh38]
Chr12:81026010 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.156T>G (p.Asn52Lys) single nucleotide variant not provided [RCV001357625] Chr12:80444842 [GRCh38]
Chr12:80838622 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6327+38C>T single nucleotide variant not provided [RCV001536202] Chr12:80669179 [GRCh38]
Chr12:81062958 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) single nucleotide variant Deafness, autosomal dominant 73 [RCV001335715] Chr12:80510386 [GRCh38]
Chr12:80904165 [GRCh37]
Chr12:12q21.31
pathogenic
NM_001145026.2(PTPRQ):c.5076T>A (p.Ile1692=) single nucleotide variant not provided [RCV001289158] Chr12:80613749 [GRCh38]
Chr12:81007528 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5103C>A (p.Thr1701=) single nucleotide variant not provided [RCV001289159] Chr12:80613776 [GRCh38]
Chr12:81007555 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.2546C>T (p.Thr849Met) single nucleotide variant Hearing impairment [RCV001375082] Chr12:80506659 [GRCh38]
Chr12:80900438 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6883G>A (p.Glu2295Lys) single nucleotide variant Hearing impairment [RCV001375456] Chr12:80679006 [GRCh38]
Chr12:81072785 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=) single nucleotide variant Sensorineural hearing impairment [RCV001353200] Chr12:80649669 [GRCh38]
Chr12:81043448 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly) single nucleotide variant Hearing impairment [RCV001375334] Chr12:80468814 [GRCh38]
Chr12:80862593 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1042C>T (p.Arg348Cys) single nucleotide variant not provided [RCV001356699] Chr12:80472107 [GRCh38]
Chr12:80865886 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6738+25A>G single nucleotide variant not provided [RCV001541520] Chr12:80673329 [GRCh38]
Chr12:81067108 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5902G>A (p.Glu1968Lys) single nucleotide variant not provided [RCV001534942] Chr12:80635060 [GRCh38]
Chr12:81028839 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.2678+103C>T single nucleotide variant not provided [RCV001538622] Chr12:80510546 [GRCh38]
Chr12:80904325 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4918+133A>G single nucleotide variant not provided [RCV001590296] Chr12:80610758 [GRCh38]
Chr12:81004537 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.911-250G>A single nucleotide variant not provided [RCV001673273] Chr12:80468460 [GRCh38]
Chr12:80862239 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3604A>G (p.Asn1202Asp) single nucleotide variant not provided [RCV001675308] Chr12:80542247 [GRCh38]
Chr12:80936026 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6453+104G>A single nucleotide variant not provided [RCV001686560] Chr12:80669568 [GRCh38]
Chr12:81063347 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4919-232T>C single nucleotide variant not provided [RCV001666875] Chr12:80613360 [GRCh38]
Chr12:81007139 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2273-159G>A single nucleotide variant not provided [RCV001684435] Chr12:80505865 [GRCh38]
Chr12:80899644 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2985+190AC[8] microsatellite not provided [RCV001655135] Chr12:80535227..80535230 [GRCh38]
Chr12:80929006..80929009 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1541-142C>T single nucleotide variant not provided [RCV001653295] Chr12:80494791 [GRCh38]
Chr12:80888570 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.5943-6T>C single nucleotide variant not provided [RCV001651639] Chr12:80649582 [GRCh38]
Chr12:81043361 [GRCh37]
Chr12:12q21.31
benign
Single allele single nucleotide variant not specified [RCV001528271] Chr12:80425096 [GRCh38]
Chr12:80818876 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2985+180C>G single nucleotide variant not provided [RCV001716372] Chr12:80535217 [GRCh38]
Chr12:80928996 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2456-13G>T single nucleotide variant not provided [RCV001647360]|not specified [RCV001528733] Chr12:80506556 [GRCh38]
Chr12:80900335 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4731+250G>A single nucleotide variant not provided [RCV001617693] Chr12:80605430 [GRCh38]
Chr12:80999209 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.391-822A>G single nucleotide variant not provided [RCV001685010] Chr12:80456753 [GRCh38]
Chr12:80853424 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.201C>T (p.Val67=) single nucleotide variant not provided [RCV001589513] Chr12:80445528 [GRCh38]
Chr12:80839308 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.391-323T>C single nucleotide variant not provided [RCV001618765] Chr12:80457252 [GRCh38]
Chr12:80852925 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1187-38T>A single nucleotide variant not provided [RCV001694730] Chr12:80484395 [GRCh38]
Chr12:80878174 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1187-69G>A single nucleotide variant not provided [RCV001616591] Chr12:80484364 [GRCh38]
Chr12:80878143 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2599T>C (p.Ser867Pro) single nucleotide variant not provided [RCV001714104] Chr12:80510364 [GRCh38]
Chr12:80904143 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1187-27dup duplication not provided [RCV001714158] Chr12:80484402..80484403 [GRCh38]
Chr12:80878181..80878182 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.1673_1682del (p.Thr558fs) deletion not provided [RCV001590249] Chr12:80495065..80495074 [GRCh38]
Chr12:80888844..80888853 [GRCh37]
Chr12:12q21.31
pathogenic
Single allele single nucleotide variant not provided [RCV001687874] Chr12:80444138 [GRCh38]
Chr12:80837918 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.6453+21C>T single nucleotide variant not provided [RCV001688017] Chr12:80669485 [GRCh38]
Chr12:81063264 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3155-221C>T single nucleotide variant not provided [RCV001590119] Chr12:80541334 [GRCh38]
Chr12:80935113 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.3660C>T (p.Ala1220=) single nucleotide variant not provided [RCV001619935]|not specified [RCV001529185] Chr12:80542303 [GRCh38]
Chr12:80936082 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2456T>G (p.Val819Gly) single nucleotide variant not provided [RCV001676024]|not specified [RCV001529265] Chr12:80506569 [GRCh38]
Chr12:80900348 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=) single nucleotide variant not provided [RCV001692449]|not specified [RCV001529503] Chr12:80506618 [GRCh38]
Chr12:80900397 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.206C>G (p.Ser69Cys) single nucleotide variant not provided [RCV001536793] Chr12:80445533 [GRCh38]
Chr12:80839313 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.4213A>C (p.Lys1405Gln) single nucleotide variant not provided [RCV001536940] Chr12:80549662 [GRCh38]
Chr12:80943441 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys) single nucleotide variant not provided [RCV001696237]|not specified [RCV001528645] Chr12:80506122 [GRCh38]
Chr12:80899901 [GRCh37]
Chr12:12q21.31
benign
NM_001145026.2(PTPRQ):c.3229C>T (p.Pro1077Ser) single nucleotide variant not provided [RCV001754920] Chr12:80541629 [GRCh38]
Chr12:80935408 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5867A>C (p.Gln1956Pro) single nucleotide variant not provided [RCV001754953] Chr12:80635025 [GRCh38]
Chr12:81028804 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5057A>T (p.Asp1686Val) single nucleotide variant not provided [RCV001755225] Chr12:80613730 [GRCh38]
Chr12:81007509 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5792G>A (p.Arg1931Gln) single nucleotide variant not provided [RCV001732436] Chr12:80634950 [GRCh38]
Chr12:81028729 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6245C>T (p.Thr2082Ile) single nucleotide variant not provided [RCV001762950] Chr12:80669059 [GRCh38]
Chr12:81062838 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.4409G>A (p.Arg1470His) single nucleotide variant not provided [RCV001754320] Chr12:80588252 [GRCh38]
Chr12:80982031 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.5355A>G (p.Ile1785Met) single nucleotide variant not provided [RCV001732781] Chr12:80619508 [GRCh38]
Chr12:81013287 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.3531A>G (p.Pro1177=) single nucleotide variant not provided [RCV001786075]   uncertain significance
NM_001145026.2(PTPRQ):c.5876C>G (p.Thr1959Arg) single nucleotide variant not provided [RCV001784888]   pathogenic
NM_001145026.2(PTPRQ):c.6107T>G (p.Ile2036Arg) single nucleotide variant not provided [RCV001763409] Chr12:80652826 [GRCh38]
Chr12:81046605 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.1247C>G (p.Thr416Ser) single nucleotide variant not provided [RCV001763802] Chr12:80484493 [GRCh38]
Chr12:80878272 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.2705A>C (p.Asn902Thr) single nucleotide variant not provided [RCV001773161] Chr12:80534041 [GRCh38]
Chr12:80927820 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6768T>C (p.Ile2256=) single nucleotide variant not provided [RCV001773977] Chr12:80678631 [GRCh38]
Chr12:81072410 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV001773103] Chr12:80445620 [GRCh38]
Chr12:80839400 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.2678+73A>C single nucleotide variant not provided [RCV001762789] Chr12:80510516 [GRCh38]
Chr12:80904295 [GRCh37]
Chr12:12q21.31
likely benign
NM_001145026.2(PTPRQ):c.1125G>A (p.Ala375=) single nucleotide variant not provided [RCV001770623] Chr12:80472190 [GRCh38]
Chr12:80865969 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.523del (p.Trp175fs) deletion not provided [RCV001769200] Chr12:80459344 [GRCh38]
Chr12:80850831 [GRCh37]
Chr12:12q21.31
uncertain significance
NM_001145026.2(PTPRQ):c.6858G>A (p.Met2286Ile) single nucleotide variant not provided [RCV001760990] Chr12:80678721 [GRCh38]
Chr12:81072500 [GRCh37]
Chr12:12q21.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9679 AgrOrtholog
COSMIC PTPRQ COSMIC
Ensembl Genes ENSG00000139304 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSP00000447522 UniProtKB/TrEMBL
  ENSP00000448844 UniProtKB/TrEMBL
  ENSP00000449133 UniProtKB/TrEMBL
  ENSP00000449526 UniProtKB/TrEMBL
  ENSP00000483259 UniProtKB/TrEMBL
  ENSP00000495607 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000547376 UniProtKB/TrEMBL
  ENST00000547881 UniProtKB/TrEMBL
  ENST00000551042 UniProtKB/TrEMBL
  ENST00000551573 UniProtKB/TrEMBL
  ENST00000616559 UniProtKB/TrEMBL
  ENST00000644991 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139304 GTEx
HGNC ID HGNC:9679 ENTREZGENE
Human Proteome Map PTPRQ Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPRJ_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNX UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:374462 UniProtKB/TrEMBL
NCBI Gene 374462 ENTREZGENE
OMIM 603317 OMIM
  613391 OMIM
  617663 OMIM
PANTHER PTHR46708:SF3 UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTP_tm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164742315 PharmGKB
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZU1 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X0B9_HUMAN UniProtKB/TrEMBL
  F8VW52_HUMAN UniProtKB/TrEMBL
  F8VXI2_HUMAN UniProtKB/TrEMBL
  F8W122_HUMAN UniProtKB/TrEMBL
  H0YIJ5_HUMAN UniProtKB/TrEMBL
  PTPRQ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPRQ  protein tyrosine phosphatase receptor type Q    protein tyrosine phosphatase, receptor type Q  Symbol and/or name change 5135510 APPROVED
2016-01-12 PTPRQ  protein tyrosine phosphatase, receptor type Q    protein tyrosine phosphatase, receptor type, Q  Symbol and/or name change 5135510 APPROVED