P3H2 (prolyl 3-hydroxylase 2) - Rat Genome Database

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Gene: P3H2 (prolyl 3-hydroxylase 2) Homo sapiens
Analyze
Symbol: P3H2
Name: prolyl 3-hydroxylase 2
RGD ID: 1312081
HGNC Page HGNC
Description: Enables procollagen-proline 3-dioxygenase activity. Involved in collagen metabolic process; negative regulation of cell population proliferation; and peptidyl-proline hydroxylation. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ10718; leprecan-like 1; leprecan-like protein 1; LEPREL1; MCVD; MLAT4; myxoid liposarcoma associated protein 4; myxoid liposarcoma-associated protein 4; procollagen-proline 3-dioxygenase 2; prolyl 3-hydroxylase 3
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 Ensembl3189,956,728 - 190,122,437 (-)EnsemblGRCh38hg38GRCh38
GRCh383189,956,728 - 190,122,278 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373189,674,517 - 189,840,067 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363191,157,316 - 191,321,412 (-)NCBINCBI36hg18NCBI36
Build 343191,157,323 - 191,321,420NCBI
Celera3188,102,461 - 188,268,906 (-)NCBI
Cytogenetic Map3q28NCBI
HuRef3187,072,503 - 187,237,981 (-)NCBIHuRef
CHM1_13189,637,377 - 189,803,103 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:10449603   PMID:12477932   PMID:14702039   PMID:15044469   PMID:15063763   PMID:15489334   PMID:16344560   PMID:18487197   PMID:18519826   PMID:19436308   PMID:20379614  
PMID:21757687   PMID:21873635   PMID:21885030   PMID:24172257   PMID:25469533   PMID:25525168   PMID:26186194   PMID:26496610   PMID:28514442   PMID:29956121   PMID:30608193   PMID:31536960  
PMID:32807901   PMID:33918807  


Genomics

Comparative Map Data
P3H2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3189,956,728 - 190,122,437 (-)EnsemblGRCh38hg38GRCh38
GRCh383189,956,728 - 190,122,278 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373189,674,517 - 189,840,067 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363191,157,316 - 191,321,412 (-)NCBINCBI36hg18NCBI36
Build 343191,157,323 - 191,321,420NCBI
Celera3188,102,461 - 188,268,906 (-)NCBI
Cytogenetic Map3q28NCBI
HuRef3187,072,503 - 187,237,981 (-)NCBIHuRef
CHM1_13189,637,377 - 189,803,103 (-)NCBICHM1_1
P3h2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391625,778,034 - 25,924,563 (-)NCBIGRCm39mm39
GRCm39 Ensembl1625,778,038 - 25,924,534 (-)Ensembl
GRCm381625,959,284 - 26,105,813 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1625,959,288 - 26,105,784 (-)EnsemblGRCm38mm10GRCm38
MGSCv371625,960,409 - 26,105,870 (-)NCBIGRCm37mm9NCBIm37
MGSCv361625,875,672 - 26,021,133 (-)NCBImm8
Celera1626,503,926 - 26,649,250 (-)NCBICelera
Cytogenetic Map16B1NCBI
P3h2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21174,634,267 - 74,775,422 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1178,029,038 - 78,169,648 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01178,028,885 - 78,169,746 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01182,549,554 - 82,690,068 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41176,687,437 - 76,828,785 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11176,745,025 - 76,886,374 (+)NCBI
Celera1173,544,026 - 73,685,131 (+)NCBICelera
Cytogenetic Map11q22NCBI
P3h2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542017,964,153 - 18,117,095 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542017,964,153 - 18,118,442 (+)NCBIChiLan1.0ChiLan1.0
P3H2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13195,532,341 - 195,695,510 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3195,533,511 - 195,695,598 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03186,976,926 - 187,141,678 (-)NCBIMhudiblu_PPA_v0panPan3
P3H2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13422,035,124 - 22,185,146 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3422,023,068 - 22,185,026 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3426,128,347 - 26,278,616 (-)NCBI
ROS_Cfam_1.03421,969,192 - 22,119,559 (-)NCBI
UMICH_Zoey_3.13421,984,404 - 22,141,097 (-)NCBI
UNSW_CanFamBas_1.03421,977,205 - 22,127,973 (-)NCBI
UU_Cfam_GSD_1.03422,219,915 - 22,370,251 (-)NCBI
P3h2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602114,177,035 - 114,339,277 (+)NCBI
SpeTri2.0NW_004936578268,815 - 431,123 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P3H2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13127,414,955 - 127,572,163 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113127,414,955 - 127,572,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213136,665,659 - 136,863,053 (-)NCBISscrofa10.2Sscrofa10.2susScr3
P3H2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11584,185,288 - 84,348,186 (-)NCBI
ChlSab1.1 Ensembl1584,185,299 - 84,348,011 (-)Ensembl
Vero_WHO_p1.0NW_02366604157,767,198 - 57,931,651 (-)NCBI
P3h2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473067,072,389 - 67,228,207 (+)NCBI

Position Markers
D3S1661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,683,698 - 189,684,038UniSTSGRCh37
Celera3188,112,791 - 188,113,129UniSTS
Cytogenetic Map3q28UniSTS
HuRef3187,081,642 - 187,081,986UniSTS
Marshfield Genetic Map3209.41RGD
Marshfield Genetic Map3209.41UniSTS
RH65174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,798,208 - 189,798,355UniSTSGRCh37
Build 363191,280,902 - 191,281,049RGDNCBI36
Celera3188,227,281 - 188,227,428RGD
Cytogenetic Map3q28UniSTS
HuRef3187,195,963 - 187,196,110UniSTS
RH93767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,674,986 - 189,675,175UniSTSGRCh37
Build 363191,157,680 - 191,157,869RGDNCBI36
Celera3188,102,930 - 188,103,119RGD
Cytogenetic Map3q28UniSTS
HuRef3187,072,972 - 187,073,161UniSTS
GeneMap99-GB4 RH Map3706.33UniSTS
SHGC-82105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,769,192 - 189,769,526UniSTSGRCh37
Build 363191,251,886 - 191,252,220RGDNCBI36
Celera3188,198,266 - 188,198,600RGD
Cytogenetic Map3q28UniSTS
HuRef3187,166,946 - 187,167,280UniSTS
TNG Radiation Hybrid Map3104404.0UniSTS
STS-N21495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,674,869 - 189,675,010UniSTSGRCh37
Build 363191,157,563 - 191,157,704RGDNCBI36
Celera3188,102,813 - 188,102,954RGD
Cytogenetic Map3q28UniSTS
HuRef3187,072,855 - 187,072,996UniSTS
TNG Radiation Hybrid Map3104369.0UniSTS
GeneMap99-GB4 RH Map3706.33UniSTS
NCBI RH Map31910.2UniSTS
D3S2379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,786,973 - 189,787,191UniSTSGRCh37
Build 363191,269,667 - 191,269,885RGDNCBI36
Celera3188,216,046 - 188,216,264RGD
Cytogenetic Map3q28UniSTS
HuRef3187,184,728 - 187,184,946UniSTS
Whitehead-RH Map3866.5UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31910.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2055
Count of miRNA genes:831
Interacting mature miRNAs:986
Transcripts:ENST00000319332, ENST00000426003, ENST00000427335, ENST00000444866, ENST00000463171, ENST00000467131, ENST00000470925, ENST00000475095, ENST00000482780, ENST00000490940
Prediction methods: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 1613 903 431 43 441 23 2040 694 485 377 925 632 32 114 1227 2
Low 782 1252 1258 552 477 413 2063 1164 2824 39 511 916 139 1089 1315 2
Below cutoff 22 758 30 25 817 26 251 333 393 2 11 33 1 246

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC063939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ430351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX877037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU621129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU737886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA720646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA879789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000319332   ⟹   ENSP00000316881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,956,728 - 190,120,897 (-)Ensembl
RefSeq Acc Id: ENST00000426003   ⟹   ENSP00000394326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,988,915 - 190,121,678 (-)Ensembl
RefSeq Acc Id: ENST00000427335   ⟹   ENSP00000408947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,956,831 - 190,122,437 (-)Ensembl
RefSeq Acc Id: ENST00000444866   ⟹   ENSP00000391374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,988,907 - 190,116,648 (-)Ensembl
RefSeq Acc Id: ENST00000463171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,963,459 - 189,971,927 (-)Ensembl
RefSeq Acc Id: ENST00000467131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,964,050 - 189,973,184 (-)Ensembl
RefSeq Acc Id: ENST00000470925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,974,568 - 189,987,765 (-)Ensembl
RefSeq Acc Id: ENST00000475095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,974,573 - 189,983,484 (-)Ensembl
RefSeq Acc Id: ENST00000482780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,971,548 - 189,974,190 (-)Ensembl
RefSeq Acc Id: ENST00000490940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3189,957,697 - 189,964,121 (-)Ensembl
RefSeq Acc Id: NM_001134418   ⟹   NP_001127890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,956,728 - 190,122,278 (-)NCBI
GRCh373189,674,517 - 189,840,226 (-)RGD
Celera3188,102,461 - 188,268,906 (-)RGD
HuRef3187,072,503 - 187,237,981 (-)ENTREZGENE
CHM1_13189,637,377 - 189,803,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018192   ⟹   NP_060662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,956,728 - 190,120,897 (-)NCBI
GRCh373189,674,517 - 189,840,226 (-)RGD
Build 363191,157,316 - 191,321,412 (-)NCBI Archive
Celera3188,102,461 - 188,268,906 (-)RGD
HuRef3187,072,503 - 187,237,981 (-)ENTREZGENE
CHM1_13189,637,377 - 189,801,786 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512955   ⟹   XP_011511257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,956,728 - 190,121,678 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001127890   ⟸   NM_001134418
- Peptide Label: isoform b
- UniProtKB: Q8IVL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060662   ⟸   NM_018192
- Peptide Label: isoform a precursor
- UniProtKB: Q8IVL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511257   ⟸   XM_011512955
- Peptide Label: isoform X1
- UniProtKB: Q8IVL5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394326   ⟸   ENST00000426003
RefSeq Acc Id: ENSP00000408947   ⟸   ENST00000427335
RefSeq Acc Id: ENSP00000391374   ⟸   ENST00000444866
RefSeq Acc Id: ENSP00000316881   ⟸   ENST00000319332
Protein Domains
Fe2OG dioxygenase

Promoters
RGD ID:6866594
Promoter ID:EPDNEW_H6462
Type:initiation region
Name:P3H2_4
Description:prolyl 3-hydroxylase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6463  EPDNEW_H6464  EPDNEW_H6465  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,120,431 - 190,120,491EPDNEW
RGD ID:6866596
Promoter ID:EPDNEW_H6463
Type:initiation region
Name:P3H2_1
Description:prolyl 3-hydroxylase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6462  EPDNEW_H6464  EPDNEW_H6465  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,120,897 - 190,120,957EPDNEW
RGD ID:6866598
Promoter ID:EPDNEW_H6464
Type:initiation region
Name:P3H2_3
Description:prolyl 3-hydroxylase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6462  EPDNEW_H6463  EPDNEW_H6465  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,122,437 - 190,122,497EPDNEW
RGD ID:6866600
Promoter ID:EPDNEW_H6465
Type:initiation region
Name:P3H2_2
Description:prolyl 3-hydroxylase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6462  EPDNEW_H6463  EPDNEW_H6464  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,124,268 - 190,124,328EPDNEW
RGD ID:6801238
Promoter ID:HG_KWN:47204
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343861
Position:
Human AssemblyChrPosition (strand)Source
Build 363191,174,851 - 191,175,351 (-)MPROMDB
RGD ID:6801239
Promoter ID:HG_KWN:47207
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343858
Position:
Human AssemblyChrPosition (strand)Source
Build 363191,317,166 - 191,318,127 (-)MPROMDB
RGD ID:6801568
Promoter ID:HG_KWN:47208
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000343854,   OTTHUMT00000343855,   UC003FSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363191,320,676 - 191,321,427 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018192.4(P3H2):c.1328del (p.Gly443fs) deletion not provided [RCV000519726] Chr3:189974682 [GRCh38]
Chr3:189692471 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val) single nucleotide variant Myopia, high, with cataract and vitreoretinal degeneration [RCV000023807] Chr3:189973934 [GRCh38]
Chr3:189691723 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1803A>G (p.Thr601=) single nucleotide variant not provided [RCV001450260] Chr3:189971904 [GRCh38]
Chr3:189689693 [GRCh37]
Chr3:3q28
likely benign
NM_001134418.1(P3H2):c.1491+1759T>A single nucleotide variant Lung cancer [RCV000093392] Chr3:189962199 [GRCh38]
Chr3:189679988 [GRCh37]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28
pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29
pathogenic
GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 copy number loss See cases [RCV000051611] Chr3:187446231..190839052 [GRCh38]
Chr3:187164019..190556841 [GRCh37]
Chr3:188646713..192039535 [NCBI36]
Chr3:3q27.3-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_018192.4(P3H2):c.1356C>T (p.Phe452=) single nucleotide variant not provided [RCV001403296] Chr3:189974654 [GRCh38]
Chr3:189692443 [GRCh37]
Chr3:191175137 [NCBI36]
Chr3:3q28
likely benign|not provided
NM_018192.4(P3H2):c.555G>T (p.Gln185His) single nucleotide variant Myopia, high, with cataract and vitreoretinal degeneration [RCV000660490]|not provided [RCV001518824] Chr3:189995368 [GRCh38]
Chr3:189713157 [GRCh37]
Chr3:3q28
benign|uncertain significance
NM_018192.4(P3H2):c.677T>A (p.Phe226Tyr) single nucleotide variant not provided [RCV001312670] Chr3:189994240 [GRCh38]
Chr3:189712029 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.22C>T (p.Pro8Ser) single nucleotide variant not provided [RCV001303212] Chr3:190120710 [GRCh38]
Chr3:189838499 [GRCh37]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q28(chr3:190075909-190254725)x1 copy number loss See cases [RCV000135211] Chr3:190075909..190254725 [GRCh38]
Chr3:189793698..189972514 [GRCh37]
Chr3:191276392..191455208 [NCBI36]
Chr3:3q28
likely benign
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 copy number loss See cases [RCV000143464] Chr3:187434386..192142942 [GRCh38]
Chr3:187152174..191860731 [GRCh37]
Chr3:188634868..193343425 [NCBI36]
Chr3:3q27.3-28
likely pathogenic
GRCh38/hg38 3q28(chr3:189218502-190089843)x3 copy number gain See cases [RCV000143513] Chr3:189218502..190089843 [GRCh38]
Chr3:188936291..189807632 [GRCh37]
Chr3:190418985..191290326 [NCBI36]
Chr3:3q28
likely benign|uncertain significance
NM_018192.4(P3H2):c.556C>T (p.Gln186Ter) single nucleotide variant Myopia, high, with cataract and vitreoretinal degeneration [RCV000149825] Chr3:189995367 [GRCh38]
Chr3:189713156 [GRCh37]
Chr3:3q28
pathogenic|not provided
NM_018192.4(P3H2):c.297del (p.Gly100fs) deletion Myopia, high, with cataract and vitreoretinal degeneration [RCV000210936] Chr3:190120435 [GRCh38]
Chr3:189838224 [GRCh37]
Chr3:3q28
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28
pathogenic
NM_018192.4(P3H2):c.743G>A (p.Arg248Gln) single nucleotide variant not provided [RCV001367683] Chr3:189994174 [GRCh38]
Chr3:189711963 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.2004G>C (p.Trp668Cys) single nucleotide variant not provided [RCV000522428] Chr3:189963988 [GRCh38]
Chr3:189681777 [GRCh37]
Chr3:3q28
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_018192.4(P3H2):c.1726del (p.Ser576fs) deletion not provided [RCV000481253] Chr3:189971981 [GRCh38]
Chr3:189689770 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1452+1G>T single nucleotide variant not provided [RCV000486475] Chr3:189974557 [GRCh38]
Chr3:189692346 [GRCh37]
Chr3:3q28
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3q28(chr3:189594136-189687287)x1 copy number loss not provided [RCV000682345] Chr3:189594136..189687287 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) single nucleotide variant Retinitis pigmentosa [RCV001003107] Chr3:189984566 [GRCh38]
Chr3:189702355 [GRCh37]
Chr3:3q28
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NC_000003.12:g.(?_187222939)_(194312782_?)del deletion Schizophrenia [RCV000754274] Chr3:187222939..194312782 [GRCh38]
Chr3:3q27.3-29
likely pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q28(chr3:189679250-189994349)x1 copy number loss not provided [RCV000743051] Chr3:189679250..189994349 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189838142-189840887)x1 copy number loss not provided [RCV000743052] Chr3:189838142..189840887 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189839297-189840887)x1 copy number loss not provided [RCV000743053] Chr3:189839297..189840887 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189840072-189840887)x1 copy number loss not provided [RCV000743054] Chr3:189840072..189840887 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189840072-189842975)x0 copy number loss not provided [RCV000743055] Chr3:189840072..189842975 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189840176-189842975)x0 copy number loss not provided [RCV000743056] Chr3:189840176..189842975 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1372C>T (p.Gln458Ter) single nucleotide variant not provided [RCV000760594] Chr3:189974638 [GRCh38]
Chr3:189692427 [GRCh37]
Chr3:3q28
likely pathogenic
NM_018192.4(P3H2):c.132C>A (p.Phe44Leu) single nucleotide variant not provided [RCV001057112] Chr3:190120600 [GRCh38]
Chr3:189838389 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
NM_018192.4(P3H2):c.963G>A (p.Glu321=) single nucleotide variant not provided [RCV000898989] Chr3:189987662 [GRCh38]
Chr3:189705451 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.972A>G (p.Lys324=) single nucleotide variant not provided [RCV000946779] Chr3:189987653 [GRCh38]
Chr3:189705442 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.309C>G (p.Pro103=) single nucleotide variant not provided [RCV000925300] Chr3:190120423 [GRCh38]
Chr3:189838212 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1807C>A (p.Arg603=) single nucleotide variant not provided [RCV000973867] Chr3:189971900 [GRCh38]
Chr3:189689689 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1452+7A>T single nucleotide variant not provided [RCV000902155] Chr3:189974551 [GRCh38]
Chr3:189692340 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.11G>A (p.Arg4His) single nucleotide variant not provided [RCV001043938] Chr3:190120721 [GRCh38]
Chr3:189838510 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.779A>T (p.Tyr260Phe) single nucleotide variant not provided [RCV001044543] Chr3:189994138 [GRCh38]
Chr3:189711927 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.784T>A (p.Tyr262Asn) single nucleotide variant not provided [RCV001044544] Chr3:189994133 [GRCh38]
Chr3:189711922 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1169G>A (p.Gly390Glu) single nucleotide variant not provided [RCV001034289] Chr3:189986807 [GRCh38]
Chr3:189704596 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.887G>C (p.Gly296Ala) single nucleotide variant not provided [RCV001039531] Chr3:189988975 [GRCh38]
Chr3:189706764 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1906C>T (p.Pro636Ser) single nucleotide variant not provided [RCV001044855] Chr3:189964086 [GRCh38]
Chr3:189681875 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.29T>C (p.Leu10Pro) single nucleotide variant not provided [RCV001044907] Chr3:190120703 [GRCh38]
Chr3:189838492 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.335C>G (p.Ser112Cys) single nucleotide variant not provided [RCV001064723] Chr3:190120397 [GRCh38]
Chr3:189838186 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1280T>C (p.Met427Thr) single nucleotide variant not provided [RCV001042269] Chr3:189983090 [GRCh38]
Chr3:189700879 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.101TGGAGC[3] (p.34LE[3]) microsatellite not provided [RCV001047053] Chr3:190120619..190120620 [GRCh38]
Chr3:189838408..189838409 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.2023T>C (p.Tyr675His) single nucleotide variant not provided [RCV001062153] Chr3:189963969 [GRCh38]
Chr3:189681758 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.2038C>T (p.Arg680Ter) single nucleotide variant not provided [RCV001047398] Chr3:189958001 [GRCh38]
Chr3:189675790 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.313G>T (p.Ala105Ser) single nucleotide variant not provided [RCV001048006] Chr3:190120419 [GRCh38]
Chr3:189838208 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.95_100del (p.Arg32_Glu33del) deletion not provided [RCV001069961] Chr3:190120632..190120637 [GRCh38]
Chr3:189838421..189838426 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1940G>C (p.Gly647Ala) single nucleotide variant not provided [RCV001048538] Chr3:189964052 [GRCh38]
Chr3:189681841 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.266C>G (p.Ala89Gly) single nucleotide variant not provided [RCV001043009] Chr3:190120466 [GRCh38]
Chr3:189838255 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1372C>A (p.Gln458Lys) single nucleotide variant not provided [RCV001043627] Chr3:189974638 [GRCh38]
Chr3:189692427 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.679G>T (p.Glu227Ter) single nucleotide variant Myopia, high, with cataract and vitreoretinal degeneration [RCV000787019] Chr3:189994238 [GRCh38]
Chr3:189712027 [GRCh37]
Chr3:3q28
likely pathogenic
NM_018192.4(P3H2):c.481-17dup duplication not provided [RCV000966896] Chr3:189995450..189995451 [GRCh38]
Chr3:189713239..189713240 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.612C>T (p.Asp204=) single nucleotide variant not provided [RCV000946780] Chr3:189995311 [GRCh38]
Chr3:189713100 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.481-3T>C single nucleotide variant not provided [RCV000884490] Chr3:189995445 [GRCh38]
Chr3:189713234 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.696C>T (p.His232=) single nucleotide variant not provided [RCV000836752] Chr3:189994221 [GRCh38]
Chr3:189712010 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.507A>G (p.Glu169=) single nucleotide variant not provided [RCV000836679] Chr3:189995416 [GRCh38]
Chr3:189713205 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:189748700-189854888)x3 copy number gain not provided [RCV000845647] Chr3:189748700..189854888 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1256G>T (p.Gly419Val) single nucleotide variant not provided [RCV001058386] Chr3:189983114 [GRCh38]
Chr3:189700903 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.476T>G (p.Ile159Ser) single nucleotide variant not provided [RCV001060133] Chr3:190120256 [GRCh38]
Chr3:189838045 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1982A>G (p.Lys661Arg) single nucleotide variant not provided [RCV001053178] Chr3:189964010 [GRCh38]
Chr3:189681799 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1807C>T (p.Arg603Ter) single nucleotide variant not provided [RCV001246354] Chr3:189971900 [GRCh38]
Chr3:189689689 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.2044C>T (p.Gln682Ter) single nucleotide variant not provided [RCV001229157] Chr3:189957995 [GRCh38]
Chr3:189675784 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.514C>G (p.His172Asp) single nucleotide variant not provided [RCV001213718] Chr3:189995409 [GRCh38]
Chr3:189713198 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.76C>G (p.Pro26Ala) single nucleotide variant not provided [RCV001221980] Chr3:190120656 [GRCh38]
Chr3:189838445 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.29TGC[6] (p.Leu14dup) microsatellite not provided [RCV001226892] Chr3:190120688..190120689 [GRCh38]
Chr3:189838477..189838478 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.895T>G (p.Ser299Ala) single nucleotide variant not provided [RCV001209133] Chr3:189988967 [GRCh38]
Chr3:189706756 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1156G>C (p.Ala386Pro) single nucleotide variant not provided [RCV001237143] Chr3:189986820 [GRCh38]
Chr3:189704609 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.250T>A (p.Cys84Ser) single nucleotide variant not provided [RCV001240303] Chr3:190120482 [GRCh38]
Chr3:189838271 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1855G>A (p.Glu619Lys) single nucleotide variant not provided [RCV001203331] Chr3:189970854 [GRCh38]
Chr3:189688643 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.385G>C (p.Gly129Arg) single nucleotide variant not provided [RCV001239498] Chr3:190120347 [GRCh38]
Chr3:189838136 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.81_82delinsAT (p.Asp28Tyr) indel not provided [RCV001243086] Chr3:190120650..190120651 [GRCh38]
Chr3:189838439..189838440 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.33_50dup (p.Leu13_Leu18dup) duplication not provided [RCV001238305] Chr3:190120681..190120682 [GRCh38]
Chr3:189838470..189838471 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1829A>C (p.Tyr610Ser) single nucleotide variant not provided [RCV001207080] Chr3:189970880 [GRCh38]
Chr3:189688669 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1330C>G (p.Pro444Ala) single nucleotide variant not provided [RCV001225943] Chr3:189974680 [GRCh38]
Chr3:189692469 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.853C>T (p.His285Tyr) single nucleotide variant not provided [RCV001235828] Chr3:189989009 [GRCh38]
Chr3:189706798 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1452T>A (p.Ser484Arg) single nucleotide variant not provided [RCV001238857] Chr3:189974558 [GRCh38]
Chr3:189692347 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1993G>A (p.Val665Met) single nucleotide variant not provided [RCV001225661] Chr3:189963999 [GRCh38]
Chr3:189681788 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_018192.4(P3H2):c.286C>T (p.Pro96Ser) single nucleotide variant not provided [RCV001230209] Chr3:190120446 [GRCh38]
Chr3:189838235 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.493G>A (p.Glu165Lys) single nucleotide variant not provided [RCV001201953] Chr3:189995430 [GRCh38]
Chr3:189713219 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1002A>G (p.Leu334=) single nucleotide variant not provided [RCV000885862] Chr3:189987623 [GRCh38]
Chr3:189705412 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1585C>T (p.Arg529Cys) single nucleotide variant not provided [RCV001225798] Chr3:189972988 [GRCh38]
Chr3:189690777 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1501A>G (p.Thr501Ala) single nucleotide variant not provided [RCV001201527] Chr3:189973956 [GRCh38]
Chr3:189691745 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1390C>T (p.Arg464Trp) single nucleotide variant not provided [RCV001245150] Chr3:189974620 [GRCh38]
Chr3:189692409 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.36_50dup (p.Leu14_Leu18dup) duplication not provided [RCV001205805] Chr3:190120681..190120682 [GRCh38]
Chr3:189838470..189838471 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.29TGC[7] (p.Leu13_Leu14dup) microsatellite not provided [RCV001064164] Chr3:190120688..190120689 [GRCh38]
Chr3:189838477..189838478 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1509T>A (p.Asn503Lys) single nucleotide variant not provided [RCV001244019] Chr3:189973948 [GRCh38]
Chr3:189691737 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.376C>T (p.Gln126Ter) single nucleotide variant not provided [RCV001206979] Chr3:190120356 [GRCh38]
Chr3:189838145 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV001228090] Chr3:190120706 [GRCh38]
Chr3:189838495 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.383T>G (p.Leu128Arg) single nucleotide variant not provided [RCV001228092] Chr3:190120349 [GRCh38]
Chr3:189838138 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.427A>G (p.Ser143Gly) single nucleotide variant not provided [RCV001054672] Chr3:190120305 [GRCh38]
Chr3:189838094 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1064A>G (p.Asp355Gly) single nucleotide variant not provided [RCV001228414] Chr3:189987561 [GRCh38]
Chr3:189705350 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1160A>T (p.Glu387Val) single nucleotide variant not provided [RCV001070263] Chr3:189986816 [GRCh38]
Chr3:189704605 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.491T>C (p.Leu164Pro) single nucleotide variant not provided [RCV001055901] Chr3:189995432 [GRCh38]
Chr3:189713221 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.385G>T (p.Gly129Trp) single nucleotide variant not provided [RCV001056708] Chr3:190120347 [GRCh38]
Chr3:189838136 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1684C>T (p.Arg562Ter) single nucleotide variant not provided [RCV001062138] Chr3:189972889 [GRCh38]
Chr3:189690678 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1367C>T (p.Ser456Leu) single nucleotide variant not provided [RCV001069960] Chr3:189974643 [GRCh38]
Chr3:189692432 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.727G>A (p.Glu243Lys) single nucleotide variant not provided [RCV001066432] Chr3:189994190 [GRCh38]
Chr3:189711979 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.883C>T (p.Pro295Ser) single nucleotide variant not provided [RCV001039288] Chr3:189988979 [GRCh38]
Chr3:189706768 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1531G>A (p.Val511Ile) single nucleotide variant not provided [RCV001039321] Chr3:189973926 [GRCh38]
Chr3:189691715 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1046A>G (p.Tyr349Cys) single nucleotide variant not provided [RCV001043813] Chr3:189987579 [GRCh38]
Chr3:189705368 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1021G>A (p.Asp341Asn) single nucleotide variant not provided [RCV001045650] Chr3:189987604 [GRCh38]
Chr3:189705393 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.203A>G (p.Glu68Gly) single nucleotide variant not provided [RCV001202288] Chr3:190120529 [GRCh38]
Chr3:189838318 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1180A>G (p.Thr394Ala) single nucleotide variant not provided [RCV001232936] Chr3:189986796 [GRCh38]
Chr3:189704585 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.84C>G (p.Asp28Glu) single nucleotide variant not provided [RCV001211380] Chr3:190120648 [GRCh38]
Chr3:189838437 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1330C>T (p.Pro444Ser) single nucleotide variant not provided [RCV001069006] Chr3:189974680 [GRCh38]
Chr3:189692469 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.285GCCCCC[3] (p.Pro98_Pro99dup) microsatellite not provided [RCV001037094] Chr3:190120435..190120436 [GRCh38]
Chr3:189838224..189838225 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1996G>A (p.Ala666Thr) single nucleotide variant not provided [RCV001201765] Chr3:189963996 [GRCh38]
Chr3:189681785 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.394G>C (p.Ala132Pro) single nucleotide variant not provided [RCV001038675] Chr3:190120338 [GRCh38]
Chr3:189838127 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1324+5G>A single nucleotide variant not provided [RCV001063187] Chr3:189983041 [GRCh38]
Chr3:189700830 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1429C>T (p.Arg477Trp) single nucleotide variant not provided [RCV001040775] Chr3:189974581 [GRCh38]
Chr3:189692370 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.2039G>A (p.Arg680Gln) single nucleotide variant not provided [RCV001211812] Chr3:189958000 [GRCh38]
Chr3:189675789 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.47_58dup (p.12LLLP[3]) duplication not provided [RCV001348299] Chr3:190120673..190120674 [GRCh38]
Chr3:189838462..189838463 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1954C>T (p.His652Tyr) single nucleotide variant not provided [RCV001304714] Chr3:189964038 [GRCh38]
Chr3:189681827 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.467G>C (p.Arg156Pro) single nucleotide variant not provided [RCV001341599] Chr3:190120265 [GRCh38]
Chr3:189838054 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV001301032] Chr3:190120536 [GRCh38]
Chr3:189838325 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.32T>C (p.Leu11Pro) single nucleotide variant not provided [RCV001325348] Chr3:190120700 [GRCh38]
Chr3:189838489 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1565G>A (p.Arg522Gln) single nucleotide variant not provided [RCV001327040] Chr3:189973008 [GRCh38]
Chr3:189690797 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1042T>C (p.Tyr348His) single nucleotide variant not provided [RCV001342019] Chr3:189987583 [GRCh38]
Chr3:189705372 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1416G>A (p.Ser472=) single nucleotide variant not provided [RCV001351394] Chr3:189974594 [GRCh38]
Chr3:189692383 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1600A>G (p.Ile534Val) single nucleotide variant not provided [RCV001314621] Chr3:189972973 [GRCh38]
Chr3:189690762 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.256C>A (p.Arg86Ser) single nucleotide variant not provided [RCV001305585] Chr3:190120476 [GRCh38]
Chr3:189838265 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.91C>T (p.Arg31Cys) single nucleotide variant not provided [RCV001318092] Chr3:190120641 [GRCh38]
Chr3:189838430 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1531G>C (p.Val511Leu) single nucleotide variant not provided [RCV001303239] Chr3:189973926 [GRCh38]
Chr3:189691715 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.4C>T (p.Arg2Trp) single nucleotide variant not provided [RCV001312432] Chr3:190120728 [GRCh38]
Chr3:189838517 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.81G>A (p.Pro27=) single nucleotide variant not provided [RCV001339527] Chr3:190120651 [GRCh38]
Chr3:189838440 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.196_216dup (p.Asp66_Arg72dup) duplication not provided [RCV001341923] Chr3:190120515..190120516 [GRCh38]
Chr3:189838304..189838305 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.29TGC[3] (p.Leu13_Leu14del) microsatellite not provided [RCV001305708] Chr3:190120689..190120694 [GRCh38]
Chr3:189838478..189838483 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1699+4A>G single nucleotide variant not provided [RCV001342268] Chr3:189972870 [GRCh38]
Chr3:189690659 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.322C>T (p.Pro108Ser) single nucleotide variant not provided [RCV001315339] Chr3:190120410 [GRCh38]
Chr3:189838199 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.578C>T (p.Ala193Val) single nucleotide variant not provided [RCV001315688] Chr3:189995345 [GRCh38]
Chr3:189713134 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1444G>A (p.Val482Met) single nucleotide variant not provided [RCV001341483] Chr3:189974566 [GRCh38]
Chr3:189692355 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1700-8T>C single nucleotide variant not provided [RCV001433819] Chr3:189972015 [GRCh38]
Chr3:189689804 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1380C>T (p.Asn460=) single nucleotide variant not provided [RCV001433062] Chr3:189974630 [GRCh38]
Chr3:189692419 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.327T>C (p.Leu109=) single nucleotide variant not provided [RCV001394664] Chr3:190120405 [GRCh38]
Chr3:189838194 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.233_258dup (p.His87fs) duplication not provided [RCV001382453] Chr3:190120473..190120474 [GRCh38]
Chr3:189838262..189838263 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1548+3_1548+7del microsatellite Myopia, high, with cataract and vitreoretinal degeneration [RCV001336430] Chr3:189973902..189973906 [GRCh38]
Chr3:189691691..189691695 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.976C>T (p.Leu326=) single nucleotide variant not provided [RCV001422307] Chr3:189987649 [GRCh38]
Chr3:189705438 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1519G>A (p.Glu507Lys) single nucleotide variant not provided [RCV001325646] Chr3:189973938 [GRCh38]
Chr3:189691727 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.498A>G (p.Lys166=) single nucleotide variant not provided [RCV001392395] Chr3:189995425 [GRCh38]
Chr3:189713214 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.481-6C>T single nucleotide variant not provided [RCV001433459] Chr3:189995448 [GRCh38]
Chr3:189713237 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.976del (p.Leu326fs) deletion not provided [RCV001383174] Chr3:189987649 [GRCh38]
Chr3:189705438 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.451T>C (p.Tyr151His) single nucleotide variant not provided [RCV001371249] Chr3:190120281 [GRCh38]
Chr3:189838070 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.799G>C (p.Ala267Pro) single nucleotide variant not provided [RCV001306189] Chr3:189994118 [GRCh38]
Chr3:189711907 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.206C>T (p.Ala69Val) single nucleotide variant not provided [RCV001304791] Chr3:190120526 [GRCh38]
Chr3:189838315 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.2003G>C (p.Trp668Ser) single nucleotide variant not provided [RCV001321480] Chr3:189963989 [GRCh38]
Chr3:189681778 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1699+6A>C single nucleotide variant not provided [RCV001362637] Chr3:189972868 [GRCh38]
Chr3:189690657 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.265G>A (p.Ala89Thr) single nucleotide variant not provided [RCV001301427] Chr3:190120467 [GRCh38]
Chr3:189838256 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.430G>A (p.Asp144Asn) single nucleotide variant not provided [RCV001344786] Chr3:190120302 [GRCh38]
Chr3:189838091 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.42_50dup (p.Pro15_Leu17dup) duplication not provided [RCV001358936] Chr3:190120681..190120682 [GRCh38]
Chr3:189838470..189838471 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1819_1821del (p.Ala607del) deletion not provided [RCV001340806] Chr3:189970888..189970890 [GRCh38]
Chr3:189688677..189688679 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.647C>T (p.Ala216Val) single nucleotide variant not provided [RCV001320515] Chr3:189994270 [GRCh38]
Chr3:189712059 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.275A>C (p.His92Pro) single nucleotide variant not provided [RCV001361678] Chr3:190120457 [GRCh38]
Chr3:189838246 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.822A>C (p.Ala274=) single nucleotide variant not provided [RCV001358938] Chr3:189994095 [GRCh38]
Chr3:189711884 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1586G>A (p.Arg529His) single nucleotide variant not provided [RCV001297641] Chr3:189972987 [GRCh38]
Chr3:189690776 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.200T>C (p.Leu67Ser) single nucleotide variant not provided [RCV001321046] Chr3:190120532 [GRCh38]
Chr3:189838321 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.950A>G (p.Tyr317Cys) single nucleotide variant not provided [RCV001364295] Chr3:189988912 [GRCh38]
Chr3:189706701 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1711A>G (p.Arg571Gly) single nucleotide variant not provided [RCV001308270] Chr3:189971996 [GRCh38]
Chr3:189689785 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1177T>A (p.Tyr393Asn) single nucleotide variant not provided [RCV001362320] Chr3:189986799 [GRCh38]
Chr3:189704588 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.143A>C (p.Tyr48Ser) single nucleotide variant not provided [RCV001364411] Chr3:190120589 [GRCh38]
Chr3:189838378 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.464A>G (p.Gln155Arg) single nucleotide variant not provided [RCV001364450] Chr3:190120268 [GRCh38]
Chr3:189838057 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.400C>T (p.Arg134Cys) single nucleotide variant not provided [RCV001367805] Chr3:190120332 [GRCh38]
Chr3:189838121 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.875C>G (p.Ala292Gly) single nucleotide variant not provided [RCV001302882] Chr3:189988987 [GRCh38]
Chr3:189706776 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1688C>A (p.Thr563Lys) single nucleotide variant not provided [RCV001350965] Chr3:189972885 [GRCh38]
Chr3:189690674 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1013A>T (p.Asp338Val) single nucleotide variant not provided [RCV001351057] Chr3:189987612 [GRCh38]
Chr3:189705401 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.526G>A (p.Val176Met) single nucleotide variant not provided [RCV001299787] Chr3:189995397 [GRCh38]
Chr3:189713186 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.63A>C (p.Pro21=) single nucleotide variant not provided [RCV001394662] Chr3:190120669 [GRCh38]
Chr3:189838458 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.541C>G (p.His181Asp) single nucleotide variant not provided [RCV001297907] Chr3:189995382 [GRCh38]
Chr3:189713171 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1904A>C (p.Lys635Thr) single nucleotide variant not provided [RCV001309684] Chr3:189964088 [GRCh38]
Chr3:189681877 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1249G>A (p.Val417Ile) single nucleotide variant not provided [RCV001297599] Chr3:189983121 [GRCh38]
Chr3:189700910 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1187C>T (p.Pro396Leu) single nucleotide variant not provided [RCV001369240] Chr3:189986789 [GRCh38]
Chr3:189704578 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1685G>A (p.Arg562Gln) single nucleotide variant not provided [RCV001303215] Chr3:189972888 [GRCh38]
Chr3:189690677 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1417G>A (p.Glu473Lys) single nucleotide variant not provided [RCV001348909] Chr3:189974593 [GRCh38]
Chr3:189692382 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.1817+1_1817+6del deletion Myopia, high, with cataract and vitreoretinal degeneration [RCV001331029] Chr3:189971884..189971889 [GRCh38]
Chr3:189689673..189689678 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.494A>G (p.Glu165Gly) single nucleotide variant not provided [RCV001296774] Chr3:189995429 [GRCh38]
Chr3:189713218 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.181G>C (p.Glu61Gln) single nucleotide variant not provided [RCV001308409] Chr3:190120551 [GRCh38]
Chr3:189838340 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.245C>T (p.Thr82Met) single nucleotide variant not provided [RCV001317724] Chr3:190120487 [GRCh38]
Chr3:189838276 [GRCh37]
Chr3:3q28
uncertain significance
NM_018192.4(P3H2):c.955+8G>A single nucleotide variant not provided [RCV001505593] Chr3:189988899 [GRCh38]
Chr3:189706688 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1549-11_1549-10insG insertion not provided [RCV001509725] Chr3:189973034..189973035 [GRCh38]
Chr3:189690823..189690824 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1222G>A (p.Glu408Lys) single nucleotide variant not provided [RCV001515586] Chr3:189984557 [GRCh38]
Chr3:189702346 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.955+7C>A single nucleotide variant not provided [RCV001436140] Chr3:189988900 [GRCh38]
Chr3:189706689 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.201G>A (p.Leu67=) single nucleotide variant not provided [RCV001399710] Chr3:190120531 [GRCh38]
Chr3:189838320 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.495_501del (p.Lys166fs) deletion not provided [RCV001389769] Chr3:189995422..189995428 [GRCh38]
Chr3:189713211..189713217 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.955+7C>T single nucleotide variant not provided [RCV001488238] Chr3:189988900 [GRCh38]
Chr3:189706689 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.492C>T (p.Leu164=) single nucleotide variant not provided [RCV001475348] Chr3:189995431 [GRCh38]
Chr3:189713220 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.540G>A (p.Glu180=) single nucleotide variant not provided [RCV001399928] Chr3:189995383 [GRCh38]
Chr3:189713172 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1548+19T>C single nucleotide variant not provided [RCV001516208] Chr3:189973890 [GRCh38]
Chr3:189691679 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1344G>A (p.Glu448=) single nucleotide variant not provided [RCV001488745] Chr3:189974666 [GRCh38]
Chr3:189692455 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.634-17C>T single nucleotide variant not provided [RCV001511599] Chr3:189994300 [GRCh38]
Chr3:189712089 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV001486489] Chr3:190120711 [GRCh38]
Chr3:189838500 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.481-61225G>A single nucleotide variant not provided [RCV001511516] Chr3:190056667 [GRCh38]
Chr3:189774456 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.313G>A (p.Ala105Thr) single nucleotide variant not provided [RCV001512088] Chr3:190120419 [GRCh38]
Chr3:189838208 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.78C>T (p.Pro26=) single nucleotide variant not provided [RCV001489066] Chr3:190120654 [GRCh38]
Chr3:189838443 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV001492902] Chr3:190120699 [GRCh38]
Chr3:189838488 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1452+10C>T single nucleotide variant not provided [RCV001442352] Chr3:189974548 [GRCh38]
Chr3:189692337 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.30G>C (p.Leu10=) single nucleotide variant not provided [RCV001477511] Chr3:190120702 [GRCh38]
Chr3:189838491 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.634-20_634-17del deletion not provided [RCV001506542] Chr3:189994300..189994303 [GRCh38]
Chr3:189712089..189712092 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1773C>T (p.Asn591=) single nucleotide variant not provided [RCV001523660] Chr3:189971934 [GRCh38]
Chr3:189689723 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.27G>C (p.Pro9=) single nucleotide variant not provided [RCV001478604] Chr3:190120705 [GRCh38]
Chr3:189838494 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.588T>A (p.Gly196=) single nucleotide variant not provided [RCV001439316] Chr3:189995335 [GRCh38]
Chr3:189713124 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.919C>T (p.Leu307=) single nucleotide variant not provided [RCV001448564] Chr3:189988943 [GRCh38]
Chr3:189706732 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1557T>C (p.Tyr519=) single nucleotide variant not provided [RCV001443785] Chr3:189973016 [GRCh38]
Chr3:189690805 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.604T>C (p.Leu202=) single nucleotide variant not provided [RCV001426310] Chr3:189995319 [GRCh38]
Chr3:189713108 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1425G>A (p.Gln475=) single nucleotide variant not provided [RCV001404501] Chr3:189974585 [GRCh38]
Chr3:189692374 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.108G>A (p.Leu36=) single nucleotide variant not provided [RCV001412047] Chr3:190120624 [GRCh38]
Chr3:189838413 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1818-11C>T single nucleotide variant not provided [RCV001415615] Chr3:189970902 [GRCh38]
Chr3:189688691 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1077G>T (p.Pro359=) single nucleotide variant not provided [RCV001448961] Chr3:189987548 [GRCh38]
Chr3:189705337 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1615C>T (p.Arg539Ter) single nucleotide variant not provided [RCV001386344] Chr3:189972958 [GRCh38]
Chr3:189690747 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.1248C>T (p.Asn416=) single nucleotide variant not provided [RCV001423464] Chr3:189983122 [GRCh38]
Chr3:189700911 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1893+1G>A single nucleotide variant not provided [RCV001378720] Chr3:189970815 [GRCh38]
Chr3:189688604 [GRCh37]
Chr3:3q28
likely pathogenic
NM_018192.4(P3H2):c.1149A>G (p.Lys383=) single nucleotide variant not provided [RCV001449425] Chr3:189986827 [GRCh38]
Chr3:189704616 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1407C>T (p.Asn469=) single nucleotide variant not provided [RCV001399718] Chr3:189974603 [GRCh38]
Chr3:189692392 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV001410383] Chr3:190120695 [GRCh38]
Chr3:189838484 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1950C>T (p.Asn650=) single nucleotide variant not provided [RCV001437504] Chr3:189964042 [GRCh38]
Chr3:189681831 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1230-20T>A single nucleotide variant not provided [RCV001437551] Chr3:189983160 [GRCh38]
Chr3:189700949 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1508A>G (p.Asn503Ser) single nucleotide variant not provided [RCV001419312] Chr3:189973949 [GRCh38]
Chr3:189691738 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1894-7T>G single nucleotide variant not provided [RCV001403584] Chr3:189964105 [GRCh38]
Chr3:189681894 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.579G>A (p.Ala193=) single nucleotide variant not provided [RCV001447656] Chr3:189995344 [GRCh38]
Chr3:189713133 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.117G>C (p.Gly39=) single nucleotide variant not provided [RCV001408920] Chr3:190120615 [GRCh38]
Chr3:189838404 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1582G>A (p.Ala528Thr) single nucleotide variant not provided [RCV001445794] Chr3:189972991 [GRCh38]
Chr3:189690780 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.2034+16G>T single nucleotide variant not provided [RCV001424612] Chr3:189963942 [GRCh38]
Chr3:189681731 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.518C>G (p.Thr173Arg) single nucleotide variant not provided [RCV001499281] Chr3:189995405 [GRCh38]
Chr3:189713194 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1549-10T>G single nucleotide variant not provided [RCV001515097] Chr3:189973034 [GRCh38]
Chr3:189690823 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1549-4del deletion not provided [RCV001510101] Chr3:189973028 [GRCh38]
Chr3:189690817 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1443C>T (p.Ser481=) single nucleotide variant not provided [RCV001458086] Chr3:189974567 [GRCh38]
Chr3:189692356 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1549-14_1549-13dup duplication not provided [RCV001509855] Chr3:189973027..189973028 [GRCh38]
Chr3:189690816..189690817 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.981G>A (p.Glu327=) single nucleotide variant not provided [RCV001451436] Chr3:189987644 [GRCh38]
Chr3:189705433 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1549-14_1549-13insG insertion not provided [RCV001515837] Chr3:189973037..189973038 [GRCh38]
Chr3:189690826..189690827 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1938T>G (p.Ser646=) single nucleotide variant not provided [RCV001469435] Chr3:189964054 [GRCh38]
Chr3:189681843 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1189-18_1189-17del deletion not provided [RCV001516400] Chr3:189984607..189984608 [GRCh38]
Chr3:189702396..189702397 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1408G>A (p.Val470Ile) single nucleotide variant not provided [RCV001462829] Chr3:189974602 [GRCh38]
Chr3:189692391 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.240C>T (p.Ile80=) single nucleotide variant not provided [RCV001456286] Chr3:190120492 [GRCh38]
Chr3:189838281 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1189-17del deletion not provided [RCV001522379] Chr3:189984607 [GRCh38]
Chr3:189702396 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1549-15G>T single nucleotide variant not provided [RCV001513203] Chr3:189973039 [GRCh38]
Chr3:189690828 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1935A>T (p.Ser645=) single nucleotide variant not provided [RCV001477951] Chr3:189964057 [GRCh38]
Chr3:189681846 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.782A>T (p.Glu261Val) single nucleotide variant not provided [RCV001513565] Chr3:189994135 [GRCh38]
Chr3:189711924 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.634-18C>T single nucleotide variant not provided [RCV001518309] Chr3:189994301 [GRCh38]
Chr3:189712090 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1549-15_1549-14dup duplication not provided [RCV001518915] Chr3:189973037..189973038 [GRCh38]
Chr3:189690826..189690827 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter) single nucleotide variant not provided [RCV001381103] Chr3:189974623 [GRCh38]
Chr3:189692412 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.2034+16G>A single nucleotide variant not provided [RCV001509802] Chr3:189963942 [GRCh38]
Chr3:189681731 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1434G>A (p.Glu478=) single nucleotide variant not provided [RCV001479873] Chr3:189974576 [GRCh38]
Chr3:189692365 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.634-18_634-17delinsTT indel not provided [RCV001518692] Chr3:189994300..189994301 [GRCh38]
Chr3:189712089..189712090 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1549-13T>G single nucleotide variant not provided [RCV001513840] Chr3:189973037 [GRCh38]
Chr3:189690826 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1194T>C (p.Tyr398=) single nucleotide variant not provided [RCV001473915] Chr3:189984585 [GRCh38]
Chr3:189702374 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.633+14G>C single nucleotide variant not provided [RCV001519577] Chr3:189995276 [GRCh38]
Chr3:189713065 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1549-14dup duplication not provided [RCV001520972] Chr3:189973027..189973028 [GRCh38]
Chr3:189690816..189690817 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.955+19G>A single nucleotide variant not provided [RCV001513655] Chr3:189988888 [GRCh38]
Chr3:189706677 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.889C>T (p.Arg297Cys) single nucleotide variant not provided [RCV001521185] Chr3:189988973 [GRCh38]
Chr3:189706762 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.57G>A (p.Pro19=) single nucleotide variant not provided [RCV001425397] Chr3:190120675 [GRCh38]
Chr3:189838464 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.340T>C (p.Leu114=) single nucleotide variant not provided [RCV001512968] Chr3:190120392 [GRCh38]
Chr3:189838181 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1098+7C>T single nucleotide variant not provided [RCV001440615] Chr3:189987520 [GRCh38]
Chr3:189705309 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1605C>T (p.Ser535=) single nucleotide variant not provided [RCV001451887] Chr3:189972968 [GRCh38]
Chr3:189690757 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1377G>A (p.Leu459=) single nucleotide variant not provided [RCV001511221] Chr3:189974633 [GRCh38]
Chr3:189692422 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.379C>T (p.Arg127Cys) single nucleotide variant not provided [RCV001511222] Chr3:190120353 [GRCh38]
Chr3:189838142 [GRCh37]
Chr3:3q28
benign
NM_018192.4(P3H2):c.1077G>A (p.Pro359=) single nucleotide variant not provided [RCV001463305] Chr3:189987548 [GRCh38]
Chr3:189705337 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.389del (p.Gly130fs) deletion not provided [RCV001385904] Chr3:190120343 [GRCh38]
Chr3:189838132 [GRCh37]
Chr3:3q28
pathogenic
NM_018192.4(P3H2):c.261C>T (p.His87=) single nucleotide variant not provided [RCV001416373] Chr3:190120471 [GRCh38]
Chr3:189838260 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.1278A>T (p.Ser426=) single nucleotide variant not provided [RCV001416185] Chr3:189983092 [GRCh38]
Chr3:189700881 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.420T>C (p.Asp140=) single nucleotide variant not provided [RCV001443976] Chr3:190120312 [GRCh38]
Chr3:189838101 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.75C>G (p.Gly25=) single nucleotide variant not provided [RCV001452297] Chr3:190120657 [GRCh38]
Chr3:189838446 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.417G>A (p.Glu139=) single nucleotide variant not provided [RCV001419101] Chr3:190120315 [GRCh38]
Chr3:189838104 [GRCh37]
Chr3:3q28
likely benign
NM_018192.4(P3H2):c.975C>T (p.Ala325=) single nucleotide variant not provided [RCV001437911] Chr3:189987650 [GRCh38]
Chr3:189705439 [GRCh37]
Chr3:3q28
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19317 AgrOrtholog
COSMIC P3H2 COSMIC
Ensembl Genes ENSG00000090530 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000316881 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391374 UniProtKB/TrEMBL
  ENSP00000394326 UniProtKB/TrEMBL
  ENSP00000408947 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000319332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426003 UniProtKB/TrEMBL
  ENST00000427335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444866 UniProtKB/TrEMBL
GTEx ENSG00000090530 GTEx
HGNC ID HGNC:19317 ENTREZGENE
Human Proteome Map P3H2 Human Proteome Map
InterPro Oxoglu/Fe-dep_dioxygenase UniProtKB/Swiss-Prot
  P3H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P3H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro_4_hyd_alph UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:55214 UniProtKB/Swiss-Prot
NCBI Gene 55214 ENTREZGENE
OMIM 610341 OMIM
  614292 OMIM
PANTHER PTHR14049 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14049:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 2OG-FeII_Oxy_3 UniProtKB/Swiss-Prot
PharmGKB PA134922807 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
  FE2OG_OXY UniProtKB/Swiss-Prot
SMART P4Hc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
UniProt C9J313_HUMAN UniProtKB/TrEMBL
  C9JSL4_HUMAN UniProtKB/TrEMBL
  P3H2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KPK0 UniProtKB/Swiss-Prot
  B3KWI9 UniProtKB/Swiss-Prot
  D3DNV8 UniProtKB/Swiss-Prot
  Q9NVI2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-16 P3H2  prolyl 3-hydroxylase 2  LEPREL1  leprecan-like 1  Symbol and/or name change 5135510 APPROVED
2011-12-20 LEPREL1  leprecan-like 1  LEPREL1  leprecan-like 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 LEPREL1  leprecan-like 1  LEPREL1  leprecan-like 1  Symbol and/or name change 5135510 APPROVED