PRPF3 (pre-mRNA processing factor 3) - Rat Genome Database

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Gene: PRPF3 (pre-mRNA processing factor 3) Homo sapiens
Analyze
Symbol: PRPF3
Name: pre-mRNA processing factor 3
RGD ID: 1321525
HGNC Page HGNC:17348
Description: Enables identical protein binding activity. Involved in spliceosomal tri-snRNP complex assembly. Located in Cajal body; cytosol; and nuclear speck. Part of U2-type precatalytic spliceosome and U4/U6 x U5 tri-snRNP complex. Implicated in retinitis pigmentosa and retinitis pigmentosa 18.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HPRP3; HPRP3P; pre-mRNA-splicing factor 3; PRP3; PRP3 pre-mRNA processing factor 3 homolog; prp3 pre-mrna processing factor 3 homolog (yeast); Prp3p; RP18; SNRNP90; U4/U6 small nuclear ribonucleoprotein Prp3; U4/U6 snRNP 90 kDa protein; U4/U6-associated RNA splicing factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC110998.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,321,468 - 150,353,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,321,479 - 150,353,233 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,293,917 - 150,325,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,560,642 - 148,592,295 (+)NCBINCBI36Build 36hg18NCBI36
Build 341147,107,090 - 147,138,741NCBI
Celera1123,409,676 - 123,441,464 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,672,548 - 121,704,443 (+)NCBIHuRef
CHM1_11151,689,605 - 151,721,359 (+)NCBICHM1_1
T2T-CHM13v2.01149,446,460 - 149,478,314 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Chakarova CF, etal., Hum Mol Genet. 2002 Jan 1;11(1):87-92.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. The spliceosome: design principles of a dynamic RNP machine. Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.
Additional References at PubMed
PMID:8125298   PMID:8842740   PMID:9328476   PMID:9404889   PMID:9521884   PMID:9600251   PMID:10713041   PMID:11350945   PMID:11823439   PMID:11971898   PMID:12374753   PMID:12456665  
PMID:12477932   PMID:12714658   PMID:12875835   PMID:15085354   PMID:15257298   PMID:15314151   PMID:15452143   PMID:15489334   PMID:15541726   PMID:15635413   PMID:16055720   PMID:16159877  
PMID:16189514   PMID:16344560   PMID:16565220   PMID:16723661   PMID:17081983   PMID:17332742   PMID:17353931   PMID:17517693   PMID:17643375   PMID:17932117   PMID:18026141   PMID:18029348  
PMID:18211889   PMID:18395097   PMID:18553058   PMID:19322201   PMID:19615732   PMID:20020773   PMID:20301590   PMID:20309403   PMID:20360068   PMID:20467437   PMID:20595234   PMID:20801516  
PMID:21081503   PMID:21378395   PMID:21516116   PMID:21873635   PMID:22365833   PMID:22678362   PMID:22681889   PMID:22939629   PMID:23443559   PMID:23453885   PMID:24104479   PMID:24550385  
PMID:24711643   PMID:24778252   PMID:24981860   PMID:25184681   PMID:25383878   PMID:25416956   PMID:25544563   PMID:25849387   PMID:25910212   PMID:25921289   PMID:26030138   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26527279   PMID:26627737   PMID:26687479   PMID:26725010   PMID:26841866   PMID:26912367   PMID:26949251   PMID:27025967   PMID:27049334   PMID:27173435  
PMID:27248496   PMID:27880917   PMID:27886254   PMID:27926873   PMID:28077445   PMID:28276505   PMID:28302793   PMID:28379520   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28611215  
PMID:28695742   PMID:28781166   PMID:28878014   PMID:28977666   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29802200   PMID:29845934   PMID:29961565  
PMID:30209976   PMID:30217970   PMID:30415952   PMID:30585729   PMID:30804502   PMID:30833792   PMID:30890647   PMID:30940648   PMID:31076518   PMID:31091453   PMID:31180492   PMID:31586073  
PMID:31665637   PMID:31753913   PMID:31822558   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32433965   PMID:32538781   PMID:32780723   PMID:32807901   PMID:33111431   PMID:33298525  
PMID:33306668   PMID:33640491   PMID:33731348   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34144037   PMID:34244482   PMID:34244565   PMID:34373451   PMID:34578187  
PMID:34795231   PMID:35013218   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35545047   PMID:35627203   PMID:35785414   PMID:35831314   PMID:35833506   PMID:35850772  
PMID:35906200   PMID:35944360   PMID:36057605   PMID:36168627   PMID:36215168   PMID:36373674   PMID:36526897   PMID:36537216   PMID:36574265   PMID:37071664   PMID:37689310   PMID:37827155  
PMID:38113892  


Genomics

Comparative Map Data
PRPF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,321,468 - 150,353,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,321,479 - 150,353,233 (+)EnsemblGRCh38hg38GRCh38
GRCh371150,293,917 - 150,325,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,560,642 - 148,592,295 (+)NCBINCBI36Build 36hg18NCBI36
Build 341147,107,090 - 147,138,741NCBI
Celera1123,409,676 - 123,441,464 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,672,548 - 121,704,443 (+)NCBIHuRef
CHM1_11151,689,605 - 151,721,359 (+)NCBICHM1_1
T2T-CHM13v2.01149,446,460 - 149,478,314 (+)NCBIT2T-CHM13v2.0
Prpf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,737,436 - 95,763,197 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl395,737,436 - 95,763,197 (-)EnsemblGRCm39 Ensembl
GRCm38395,830,124 - 95,855,885 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,830,124 - 95,855,885 (-)EnsemblGRCm38mm10GRCm38
MGSCv37395,634,545 - 95,659,676 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36395,916,027 - 95,941,158 (-)NCBIMGSCv36mm8
Celera397,264,179 - 97,289,250 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map341.25NCBI
Prpf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82186,067,980 - 186,092,427 (-)NCBIGRCr8
mRatBN7.22183,379,041 - 183,403,526 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2183,378,718 - 183,403,489 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2191,043,795 - 191,068,245 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02188,847,297 - 188,871,746 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02183,676,335 - 183,700,787 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02197,947,010 - 197,971,464 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2197,947,010 - 197,971,463 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02217,438,359 - 217,462,273 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,617,888 - 190,642,833 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12190,580,645 - 190,605,482 (-)NCBI
Celera2175,908,566 - 175,933,013 (-)NCBICelera
Cytogenetic Map2q34NCBI
Prpf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955413429,259 - 455,463 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955413429,259 - 455,449 (-)NCBIChiLan1.0ChiLan1.0
PRPF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2199,485,361 - 99,517,433 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,239,273 - 99,271,372 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01125,666,604 - 125,698,591 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11129,317,223 - 129,348,430 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1129,320,605 - 129,348,214 (+)Ensemblpanpan1.1panPan2
PRPF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11759,552,227 - 59,577,027 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1759,552,340 - 59,577,009 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,998,383 - 59,023,189 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01760,571,592 - 60,592,260 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1760,567,961 - 60,592,260 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11759,398,018 - 59,423,014 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01759,481,825 - 59,506,576 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01760,209,607 - 60,234,414 (+)NCBIUU_Cfam_GSD_1.0
Prpf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505821,574,301 - 21,602,406 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936580605,138 - 633,104 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936580604,709 - 632,788 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,745,269 - 98,785,807 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,745,263 - 98,771,724 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24108,032,980 - 108,059,352 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRPF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603812,938,679 - 12,971,101 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prpf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477218,070,970 - 18,100,423 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477218,074,535 - 18,097,191 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRPF3
320 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) single nucleotide variant Retinal dystrophy [RCV001074785]|Retinitis pigmentosa 18 [RCV000003516]|Retinitis pigmentosa [RCV001003129]|not provided [RCV000726757] Chr1:150344216 [GRCh38]
Chr1:150316692 [GRCh37]
Chr1:1q21.2		 pathogenic|uncertain significance
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) single nucleotide variant Retinitis pigmentosa 18 [RCV000003517]|not provided [RCV001565464] Chr1:150344212 [GRCh38]
Chr1:150316688 [GRCh37]
Chr1:1q21.2		 pathogenic
NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp) single nucleotide variant Retinitis pigmentosa 18 [RCV000003518] Chr1:150344201 [GRCh38]
Chr1:150316677 [GRCh37]
Chr1:1q21.2		 pathogenic
GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1 copy number loss See cases [RCV000051175] Chr1:150034379..150414215 [GRCh38]
Chr1:150006344..150311095 [GRCh37]
Chr1:148272968..148653315 [NCBI36]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) single nucleotide variant PRPF3-related condition [RCV003952514]|Retinitis pigmentosa [RCV001100611]|not provided [RCV000081164] Chr1:150335238 [GRCh38]
Chr1:150307709 [GRCh37]
Chr1:1q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3 copy number gain See cases [RCV000138735] Chr1:150214843..150565007 [GRCh38]
Chr1:150187139..150537483 [GRCh37]
Chr1:148453763..148804107 [NCBI36]
Chr1:1q21.2		 likely benign
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) single nucleotide variant Retinitis pigmentosa [RCV001100608]|not provided [RCV000178895] Chr1:150332761 [GRCh38]
Chr1:150305232 [GRCh37]
Chr1:1q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004698.4(PRPF3):c.957T>C (p.Pro319=) single nucleotide variant PRPF3-related condition [RCV003927690]|not provided [RCV000179893] Chr1:150335163 [GRCh38]
Chr1:150307634 [GRCh37]
Chr1:1q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004698.4(PRPF3):c.1760-12C>T single nucleotide variant Retinitis pigmentosa 18 [RCV002487302]|Retinitis pigmentosa [RCV000395235]|not provided [RCV001516194] Chr1:150346396 [GRCh38]
Chr1:150318872 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) single nucleotide variant Retinitis pigmentosa [RCV000401372]|not provided [RCV000952300] Chr1:150352850 [GRCh38]
Chr1:150325326 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.*228A>G single nucleotide variant Retinitis pigmentosa [RCV000264138] Chr1:150353207 [GRCh38]
Chr1:150325683 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.1851G>A (p.Glu617=) single nucleotide variant Retinitis pigmentosa [RCV000292447]|not provided [RCV001438853] Chr1:150349164 [GRCh38]
Chr1:150321640 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.780G>A (p.Glu260=) single nucleotide variant PRPF3-related condition [RCV003920179]|Retinitis pigmentosa [RCV000280976]|not provided [RCV000909237] Chr1:150334986 [GRCh38]
Chr1:150307457 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=) single nucleotide variant Retinitis pigmentosa [RCV000371930]|not provided [RCV002059324] Chr1:150343343 [GRCh38]
Chr1:150315819 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.729-15C>T single nucleotide variant Retinitis pigmentosa [RCV000375523]|not provided [RCV002061151] Chr1:150334920 [GRCh38]
Chr1:150307391 [GRCh37]
Chr1:1q21.2		 benign|likely benign|uncertain significance
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
NM_004698.4(PRPF3):c.378C>T (p.Ile126=) single nucleotide variant Retinitis pigmentosa [RCV000320953]|not provided [RCV001520836] Chr1:150328421 [GRCh38]
Chr1:150300880 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.1526+14G>T single nucleotide variant Retinitis pigmentosa [RCV000351132]|not provided [RCV003765696] Chr1:150344275 [GRCh38]
Chr1:150316751 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.*154G>A single nucleotide variant Retinitis pigmentosa [RCV000303925] Chr1:150353133 [GRCh38]
Chr1:150325609 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.*42C>T single nucleotide variant Retinitis pigmentosa [RCV000307848]|not provided [RCV001707619] Chr1:150353021 [GRCh38]
Chr1:150325497 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.3(PRPF3):c.-133A>G single nucleotide variant Retinitis Pigmentosa, Dominant [RCV000363628] Chr1:150321508 [GRCh38]
Chr1:150293957 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.3(PRPF3):c.-118T>C single nucleotide variant Retinitis Pigmentosa, Dominant [RCV000265899] Chr1:150321523 [GRCh38]
Chr1:150293972 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.3(PRPF3):c.-149_-147CGG[4] microsatellite Retinitis Pigmentosa, Dominant [RCV000267788] Chr1:150321489..150321490 [GRCh38]
Chr1:150293938..150293939 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.*64A>G single nucleotide variant Retinitis pigmentosa [RCV000362255] Chr1:150353043 [GRCh38]
Chr1:150325519 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.*145_*151del deletion Retinitis Pigmentosa, Dominant [RCV000401178] Chr1:150353123..150353129 [GRCh38]
Chr1:150325599..150325605 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1906-15A>C single nucleotide variant Retinitis pigmentosa [RCV000347429] Chr1:150352818 [GRCh38]
Chr1:150325294 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.822G>C (p.Leu274=) single nucleotide variant Retinitis pigmentosa [RCV000317384] Chr1:150335028 [GRCh38]
Chr1:150307499 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1455A>G (p.Leu485=) single nucleotide variant Retinitis pigmentosa [RCV000296107] Chr1:150344190 [GRCh38]
Chr1:150316666 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1426G>A (p.Val476Met) single nucleotide variant not provided [RCV000324063] Chr1:150343452 [GRCh38]
Chr1:150315928 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.3(PRPF3):c.-139G>A single nucleotide variant Retinitis Pigmentosa, Dominant [RCV000325243] Chr1:150321502 [GRCh38]
Chr1:150293951 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1427-2A>C single nucleotide variant not provided [RCV001052049] Chr1:150344160 [GRCh38]
Chr1:150316636 [GRCh37]
Chr1:1q21.2		 likely pathogenic|uncertain significance
NM_004698.4(PRPF3):c.*209T>C single nucleotide variant Retinitis pigmentosa [RCV000358723] Chr1:150353188 [GRCh38]
Chr1:150325664 [GRCh37]
Chr1:1q21.2		 uncertain significance
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_004698.4(PRPF3):c.1283-60AT[8] microsatellite not provided [RCV001725278] Chr1:150343249..150343250 [GRCh38]
Chr1:150315725..150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-62_1283-56del deletion not provided [RCV001725282] Chr1:150343246..150343252 [GRCh38]
Chr1:150315722..150315728 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.-48-5_-48-3dup duplication not provided [RCV001535060] Chr1:150324880..150324881 [GRCh38]
Chr1:150297334..150297335 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1340A>G (p.Lys447Arg) single nucleotide variant not provided [RCV000761679] Chr1:150343366 [GRCh38]
Chr1:150315842 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1202+25A>C single nucleotide variant not provided [RCV001725790] Chr1:150338351 [GRCh38]
Chr1:150310827 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-61_1283-58del deletion not provided [RCV001725792] Chr1:150343247..150343250 [GRCh38]
Chr1:150315723..150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.-48-2A>T single nucleotide variant Retinitis pigmentosa 18 [RCV000986406] Chr1:150324893 [GRCh38]
Chr1:150297351 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2004C>T (p.His668=) single nucleotide variant Retinitis pigmentosa [RCV001097139]|not provided [RCV000916073] Chr1:150352931 [GRCh38]
Chr1:150325407 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.128A>G (p.Asp43Gly) single nucleotide variant not provided [RCV001040829] Chr1:150325070 [GRCh38]
Chr1:150297528 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1304C>G (p.Thr435Ser) single nucleotide variant Retinal dystrophy [RCV001073503]|not provided [RCV003768990] Chr1:150343330 [GRCh38]
Chr1:150315806 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1345C>G (p.Arg449Gly) single nucleotide variant Retinal dystrophy [RCV001075175]|not provided [RCV002554745] Chr1:150343371 [GRCh38]
Chr1:150315847 [GRCh37]
Chr1:1q21.2		 pathogenic|likely pathogenic
NM_004698.4(PRPF3):c.2022G>C (p.Leu674=) single nucleotide variant not provided [RCV000895636] Chr1:150352949 [GRCh38]
Chr1:150325425 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val) single nucleotide variant Retinitis pigmentosa [RCV001097138]|not provided [RCV002069637] Chr1:150349160 [GRCh38]
Chr1:150321636 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.423+101_423+103dup duplication not provided [RCV001609052] Chr1:150328547..150328548 [GRCh38]
Chr1:150301006..150301007 [GRCh37]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2-21.3(chr1:150270870-150527943)x3 copy number gain not provided [RCV000846255] Chr1:150270870..150527943 [GRCh37]
Chr1:1q21.2-21.3		 uncertain significance
NM_004698.4(PRPF3):c.1283-2A>G single nucleotide variant Retinal dystrophy [RCV003890149]|Retinitis pigmentosa [RCV001199730]|not provided [RCV000994094] Chr1:150343307 [GRCh38]
Chr1:150315783 [GRCh37]
Chr1:1q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_004698.4(PRPF3):c.733G>A (p.Val245Met) single nucleotide variant not provided [RCV001226933] Chr1:150334939 [GRCh38]
Chr1:150307410 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.520T>C (p.Ser174Pro) single nucleotide variant not provided [RCV001226005] Chr1:150332991 [GRCh38]
Chr1:150305462 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1489G>A (p.Glu497Lys) single nucleotide variant not provided [RCV001202025] Chr1:150344224 [GRCh38]
Chr1:150316700 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.508-13C>G single nucleotide variant Retinitis pigmentosa 18 [RCV001199345]|not provided [RCV002069290] Chr1:150332966 [GRCh38]
Chr1:150305437 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1283-64_1283-58del deletion not provided [RCV001671296] Chr1:150343244..150343250 [GRCh38]
Chr1:150315720..150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1640+227del deletion not provided [RCV001695001] Chr1:150344764 [GRCh38]
Chr1:150317240 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.-48-116C>A single nucleotide variant not provided [RCV001608408] Chr1:150324779 [GRCh38]
Chr1:150297233 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-60del deletion not provided [RCV001725791] Chr1:150343238 [GRCh38]
Chr1:150315714 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1843+114T>A single nucleotide variant not provided [RCV001614588] Chr1:150346605 [GRCh38]
Chr1:150319081 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.728+193= single nucleotide variant not provided [RCV001694949] Chr1:150333392 [GRCh38]
Chr1:150305863 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.277-52= single nucleotide variant not provided [RCV001618849] Chr1:150328268 [GRCh38]
Chr1:150300727 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.498T>A (p.Pro166=) single nucleotide variant not provided [RCV000896225] Chr1:150332758 [GRCh38]
Chr1:150305229 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1869T>C (p.Ala623=) single nucleotide variant not provided [RCV000916493] Chr1:150349182 [GRCh38]
Chr1:150321658 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.144C>T (p.Ala48=) single nucleotide variant not provided [RCV001229850] Chr1:150325086 [GRCh38]
Chr1:150297544 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1905+104T>G single nucleotide variant not provided [RCV001641049] Chr1:150349322 [GRCh38]
Chr1:150321798 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-60AT[7] microsatellite not provided [RCV001550753] Chr1:150343249..150343252 [GRCh38]
Chr1:150315725..150315728 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-62_1283-58del deletion not provided [RCV001654695] Chr1:150343246..150343250 [GRCh38]
Chr1:150315722..150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.-48-108T>C single nucleotide variant not provided [RCV001676192] Chr1:150324787 [GRCh38]
Chr1:150297241 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1641-125G>A single nucleotide variant not provided [RCV001637412] Chr1:150345893 [GRCh38]
Chr1:150318369 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1844-147G>A single nucleotide variant not provided [RCV001635832] Chr1:150349010 [GRCh38]
Chr1:150321486 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.729-136= single nucleotide variant not provided [RCV001671320] Chr1:150334799 [GRCh38]
Chr1:150307270 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.2014C>T (p.Leu672Phe) single nucleotide variant Retinitis pigmentosa [RCV001097140] Chr1:150352941 [GRCh38]
Chr1:150325417 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1288A>G (p.Asn430Asp) single nucleotide variant Retinitis pigmentosa [RCV001100885] Chr1:150343314 [GRCh38]
Chr1:150315790 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg) single nucleotide variant Retinitis pigmentosa [RCV001100886]|not provided [RCV001856368] Chr1:150343360 [GRCh38]
Chr1:150315836 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1906-78A>G single nucleotide variant not provided [RCV001725793] Chr1:150352755 [GRCh38]
Chr1:150325231 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.146-194C>T single nucleotide variant not provided [RCV001684374] Chr1:150325557 [GRCh38]
Chr1:150298015 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr) single nucleotide variant Retinitis pigmentosa 18 [RCV001002720] Chr1:150343311 [GRCh38]
Chr1:150315787 [GRCh37]
Chr1:1q21.2		 pathogenic
NM_004698.4(PRPF3):c.926C>T (p.Thr309Ile) single nucleotide variant not provided [RCV001069641] Chr1:150335132 [GRCh38]
Chr1:150307603 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1283-60_1283-56del deletion not provided [RCV001725283] Chr1:150343248..150343252 [GRCh38]
Chr1:150315724..150315728 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-61A>T single nucleotide variant not provided [RCV001692790] Chr1:150343248 [GRCh38]
Chr1:150315724 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.423+102_423+103dup duplication not provided [RCV001643802] Chr1:150328547..150328548 [GRCh38]
Chr1:150301006..150301007 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile) single nucleotide variant Retinitis pigmentosa 18 [RCV001196379] Chr1:150332760 [GRCh38]
Chr1:150305231 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1526_1526+5delinsTGGCACT indel Retinal dystrophy [RCV001074680] Chr1:150344261..150344266 [GRCh38]
Chr1:150316737..150316742 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1151T>C (p.Ile384Thr) single nucleotide variant Retinal dystrophy [RCV001074939] Chr1:150338275 [GRCh38]
Chr1:150310751 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1562CAG[1] (p.Ala522del) microsatellite Retinal dystrophy [RCV001075016] Chr1:150344469..150344471 [GRCh38]
Chr1:150316945..150316947 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1922G>A (p.Arg641Gln) single nucleotide variant Retinal dystrophy [RCV001075123]|not provided [RCV001339778] Chr1:150352849 [GRCh38]
Chr1:150325325 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.247A>G (p.Ser83Gly) single nucleotide variant Inborn genetic diseases [RCV002551495]|not provided [RCV001041460] Chr1:150325852 [GRCh38]
Chr1:150298310 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1799A>G (p.His600Arg) single nucleotide variant not provided [RCV001051279] Chr1:150346447 [GRCh38]
Chr1:150318923 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.*149C>G single nucleotide variant Retinitis pigmentosa [RCV001098883] Chr1:150353128 [GRCh38]
Chr1:150325604 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.-80C>T single nucleotide variant Retinitis pigmentosa [RCV001098776] Chr1:150321561 [GRCh38]
Chr1:150294010 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1042C>T (p.Leu348=) single nucleotide variant Retinitis pigmentosa [RCV001100884]|not provided [RCV003660843] Chr1:150338166 [GRCh38]
Chr1:150310642 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1390G>A (p.Val464Ile) single nucleotide variant Retinitis pigmentosa [RCV001100887] Chr1:150343416 [GRCh38]
Chr1:150315892 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1204A>G (p.Thr402Ala) single nucleotide variant Inborn genetic diseases [RCV003283873]|not provided [RCV001035634] Chr1:150340399 [GRCh38]
Chr1:150312875 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.786G>A (p.Gly262=) single nucleotide variant Retinitis pigmentosa [RCV001100609]|not provided [RCV002554966] Chr1:150334992 [GRCh38]
Chr1:150307463 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.976A>G (p.Thr326Ala) single nucleotide variant Retinitis pigmentosa [RCV001100610]|not provided [RCV001407194] Chr1:150335182 [GRCh38]
Chr1:150307653 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1496A>C (p.His499Pro) single nucleotide variant Retinitis pigmentosa [RCV001199729] Chr1:150344231 [GRCh38]
Chr1:150316707 [GRCh37]
Chr1:1q21.2		 pathogenic
NM_004698.4(PRPF3):c.1022G>A (p.Arg341Gln) single nucleotide variant Retinal dystrophy [RCV001074188] Chr1:150335228 [GRCh38]
Chr1:150307699 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1649A>G (p.Asn550Ser) single nucleotide variant Retinal dystrophy [RCV001074218]|not provided [RCV002554705] Chr1:150346026 [GRCh38]
Chr1:150318502 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1532A>C (p.His511Pro) single nucleotide variant Retinal dystrophy [RCV001074516] Chr1:150344439 [GRCh38]
Chr1:150316915 [GRCh37]
Chr1:1q21.2		 likely pathogenic
NM_004698.4(PRPF3):c.937C>T (p.Pro313Ser) single nucleotide variant not provided [RCV001302858] Chr1:150335143 [GRCh38]
Chr1:150307614 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro) single nucleotide variant Retinitis pigmentosa 18 [RCV001261958] Chr1:150344239 [GRCh38]
Chr1:150316715 [GRCh37]
Chr1:1q21.2		 likely pathogenic
NM_004698.4(PRPF3):c.539G>A (p.Arg180Gln) single nucleotide variant not provided [RCV001341725] Chr1:150333010 [GRCh38]
Chr1:150305481 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp) single nucleotide variant Retinitis pigmentosa [RCV001724294]|not provided [RCV001318173] Chr1:150344199 [GRCh38]
Chr1:150316675 [GRCh37]
Chr1:1q21.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_004698.4(PRPF3):c.1128G>C (p.Lys376Asn) single nucleotide variant not provided [RCV001340761] Chr1:150338252 [GRCh38]
Chr1:150310728 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.266G>A (p.Arg89Gln) single nucleotide variant Inborn genetic diseases [RCV003346435]|not provided [RCV001298546] Chr1:150325871 [GRCh38]
Chr1:150298329 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.243T>C (p.Ser81=) single nucleotide variant not provided [RCV001433420] Chr1:150325848 [GRCh38]
Chr1:150298306 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.885A>G (p.Gln295=) single nucleotide variant not provided [RCV001413266] Chr1:150335091 [GRCh38]
Chr1:150307562 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1356A>G (p.Thr452=) single nucleotide variant not provided [RCV001422205] Chr1:150343382 [GRCh38]
Chr1:150315858 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1249C>A (p.Leu417Ile) single nucleotide variant not provided [RCV001358911] Chr1:150340444 [GRCh38]
Chr1:150312920 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1883A>G (p.Asn628Ser) single nucleotide variant not provided [RCV001364194] Chr1:150349196 [GRCh38]
Chr1:150321672 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.677A>G (p.Asn226Ser) single nucleotide variant not provided [RCV001320167] Chr1:150333148 [GRCh38]
Chr1:150305619 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.830G>A (p.Arg277His) single nucleotide variant not provided [RCV001320184] Chr1:150335036 [GRCh38]
Chr1:150307507 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.926C>A (p.Thr309Asn) single nucleotide variant not provided [RCV001321727] Chr1:150335132 [GRCh38]
Chr1:150307603 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.123C>T (p.Gly41=) single nucleotide variant not provided [RCV001364974] Chr1:150325065 [GRCh38]
Chr1:150297523 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1349G>A (p.Arg450Lys) single nucleotide variant not provided [RCV001358465] Chr1:150343375 [GRCh38]
Chr1:150315851 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2039A>G (p.Glu680Gly) single nucleotide variant not provided [RCV001370578] Chr1:150352966 [GRCh38]
Chr1:150325442 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1258C>T (p.His420Tyr) single nucleotide variant not provided [RCV001352482] Chr1:150340453 [GRCh38]
Chr1:150312929 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.601G>A (p.Glu201Lys) single nucleotide variant not provided [RCV001351749] Chr1:150333072 [GRCh38]
Chr1:150305543 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.780G>C (p.Glu260Asp) single nucleotide variant not provided [RCV001318280] Chr1:150334986 [GRCh38]
Chr1:150307457 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1328A>G (p.Lys443Arg) single nucleotide variant not provided [RCV001360665] Chr1:150343354 [GRCh38]
Chr1:150315830 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1678A>G (p.Ile560Val) single nucleotide variant not provided [RCV001369634] Chr1:150346055 [GRCh38]
Chr1:150318531 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.493C>T (p.Pro165Ser) single nucleotide variant not provided [RCV001365979] Chr1:150332753 [GRCh38]
Chr1:150305224 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1203-10A>G single nucleotide variant not provided [RCV001490308] Chr1:150340388 [GRCh38]
Chr1:150312864 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-15A>G single nucleotide variant not provided [RCV001492185] Chr1:150343294 [GRCh38]
Chr1:150315770 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1710A>G (p.Thr570=) single nucleotide variant not provided [RCV001441082] Chr1:150346087 [GRCh38]
Chr1:150318563 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1282+8A>G single nucleotide variant not provided [RCV001438832] Chr1:150340485 [GRCh38]
Chr1:150312961 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1797G>C (p.Leu599=) single nucleotide variant not provided [RCV001503911] Chr1:150346445 [GRCh38]
Chr1:150318921 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1497C>T (p.His499=) single nucleotide variant not provided [RCV001477096] Chr1:150344232 [GRCh38]
Chr1:150316708 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1036-6T>C single nucleotide variant not provided [RCV001497395] Chr1:150338154 [GRCh38]
Chr1:150310630 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.816T>C (p.Ile272=) single nucleotide variant not provided [RCV001480804] Chr1:150335022 [GRCh38]
Chr1:150307493 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.405C>A (p.Gly135=) single nucleotide variant not provided [RCV001489445] Chr1:150328448 [GRCh38]
Chr1:150300907 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-12T>C single nucleotide variant not provided [RCV001504405] Chr1:150352821 [GRCh38]
Chr1:150325297 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1713G>C (p.Gly571=) single nucleotide variant not provided [RCV001426781] Chr1:150346090 [GRCh38]
Chr1:150318566 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1476C>T (p.Asp492=) single nucleotide variant PRPF3-related condition [RCV003946202]|not provided [RCV001461068] Chr1:150344211 [GRCh38]
Chr1:150316687 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.537A>G (p.Glu179=) single nucleotide variant not provided [RCV001440589] Chr1:150333008 [GRCh38]
Chr1:150305479 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1914C>T (p.Ala638=) single nucleotide variant not provided [RCV001448533] Chr1:150352841 [GRCh38]
Chr1:150325317 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.861T>C (p.Ala287=) single nucleotide variant not provided [RCV001410407] Chr1:150335067 [GRCh38]
Chr1:150307538 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.48G>A (p.Glu16=) single nucleotide variant not provided [RCV001419058] Chr1:150324990 [GRCh38]
Chr1:150297448 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.390A>C (p.Pro130=) single nucleotide variant not provided [RCV001410606] Chr1:150328433 [GRCh38]
Chr1:150300892 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1345C>A (p.Arg449=) single nucleotide variant not provided [RCV001416431] Chr1:150343371 [GRCh38]
Chr1:150315847 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.471A>G (p.Lys157=) single nucleotide variant not provided [RCV001406761] Chr1:150332731 [GRCh38]
Chr1:150305202 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1036-85= deletion not provided [RCV001725281] Chr1:150338075..150338089 [GRCh38]
Chr1:150310550..150310564 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1843+11dup duplication not provided [RCV001509870] Chr1:150346497..150346498 [GRCh38]
Chr1:150318973..150318974 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1283-63_1283-58del deletion not provided [RCV001669759] Chr1:150343245..150343250 [GRCh38]
Chr1:150315721..150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.146-17G>A single nucleotide variant not provided [RCV001511945] Chr1:150325734 [GRCh38]
Chr1:150298192 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1897G>C (p.Val633Leu) single nucleotide variant Retinal dystrophy [RCV003888242]|not provided [RCV001511508] Chr1:150349210 [GRCh38]
Chr1:150321686 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1844-9C>A single nucleotide variant not provided [RCV001521957] Chr1:150349148 [GRCh38]
Chr1:150321624 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1202+173= deletion not provided [RCV001686564] Chr1:150338499..150338518 [GRCh38]
Chr1:150310974..150310993 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.508-9A>T single nucleotide variant not provided [RCV001500753] Chr1:150332970 [GRCh38]
Chr1:150305441 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-61_1283-60del deletion not provided [RCV001618788] Chr1:150343238..150343239 [GRCh38]
Chr1:150315714..150315715 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1464A>G (p.Glu488=) single nucleotide variant not provided [RCV001512708] Chr1:150344199 [GRCh38]
Chr1:150316675 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1635A>G (p.Val545=) single nucleotide variant not provided [RCV001456218] Chr1:150344542 [GRCh38]
Chr1:150317018 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.102A>T (p.Ala34=) single nucleotide variant not provided [RCV001453663] Chr1:150325044 [GRCh38]
Chr1:150297502 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.508-9A>G single nucleotide variant not provided [RCV001501426] Chr1:150332970 [GRCh38]
Chr1:150305441 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-25_1288dup duplication not provided [RCV001696725] Chr1:150343283..150343284 [GRCh38]
Chr1:150315759..150315760 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1998T>C (p.Ala666=) single nucleotide variant not provided [RCV001403284] Chr1:150352925 [GRCh38]
Chr1:150325401 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1323C>T (p.Thr441=) single nucleotide variant not provided [RCV001474052] Chr1:150343349 [GRCh38]
Chr1:150315825 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1641-4C>T single nucleotide variant not provided [RCV001485026] Chr1:150346014 [GRCh38]
Chr1:150318490 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1407G>A (p.Met469Ile) single nucleotide variant Retinal dystrophy [RCV003888197]|not provided [RCV001476615] Chr1:150343433 [GRCh38]
Chr1:150315909 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.953C>T (p.Ala318Val) single nucleotide variant not provided [RCV001774246] Chr1:150335159 [GRCh38]
Chr1:150307630 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del) microsatellite Retinitis pigmentosa 18 [RCV001794533] Chr1:150340419..150340421 [GRCh38]
Chr1:150312895..150312897 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.824C>T (p.Thr275Ile) single nucleotide variant not provided [RCV001970238] Chr1:150335030 [GRCh38]
Chr1:150307501 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.949A>C (p.Ile317Leu) single nucleotide variant not provided [RCV002041693] Chr1:150335155 [GRCh38]
Chr1:150307626 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1287C>G (p.Asp429Glu) single nucleotide variant not provided [RCV002042684] Chr1:150343313 [GRCh38]
Chr1:150315789 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1426+3G>T single nucleotide variant not provided [RCV001983095] Chr1:150343455 [GRCh38]
Chr1:150315931 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1094A>G (p.His365Arg) single nucleotide variant not provided [RCV001947681] Chr1:150338218 [GRCh38]
Chr1:150310694 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.937C>A (p.Pro313Thr) single nucleotide variant not provided [RCV001912341] Chr1:150335143 [GRCh38]
Chr1:150307614 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1849GAG[1] (p.Glu618del) microsatellite not provided [RCV002042218] Chr1:150349162..150349164 [GRCh38]
Chr1:150321638..150321640 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1759+20G>A single nucleotide variant not provided [RCV001983084] Chr1:150346156 [GRCh38]
Chr1:150318632 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.145+6T>C single nucleotide variant not provided [RCV002020886] Chr1:150325093 [GRCh38]
Chr1:150297551 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.366G>C (p.Glu122Asp) single nucleotide variant not provided [RCV002035142] Chr1:150328409 [GRCh38]
Chr1:150300868 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1180A>C (p.Ile394Leu) single nucleotide variant not provided [RCV001995678] Chr1:150338304 [GRCh38]
Chr1:150310780 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1631C>T (p.Ser544Phe) single nucleotide variant not provided [RCV001919583] Chr1:150344538 [GRCh38]
Chr1:150317014 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1530G>A (p.Ala510=) single nucleotide variant not provided [RCV002037877] Chr1:150344437 [GRCh38]
Chr1:150316913 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1699C>G (p.Leu567Val) single nucleotide variant not provided [RCV002019196] Chr1:150346076 [GRCh38]
Chr1:150318552 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.857G>A (p.Arg286His) single nucleotide variant not provided [RCV001866978] Chr1:150335063 [GRCh38]
Chr1:150307534 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1762C>T (p.Pro588Ser) single nucleotide variant not provided [RCV001900194] Chr1:150346410 [GRCh38]
Chr1:150318886 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.673G>A (p.Gly225Ser) single nucleotide variant not provided [RCV002049706] Chr1:150333144 [GRCh38]
Chr1:150305615 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV001899426] Chr1:150344453 [GRCh38]
Chr1:150316929 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1578G>C (p.Lys526Asn) single nucleotide variant not provided [RCV001930211] Chr1:150344485 [GRCh38]
Chr1:150316961 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.988C>T (p.His330Tyr) single nucleotide variant not provided [RCV001991417] Chr1:150335194 [GRCh38]
Chr1:150307665 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1190A>G (p.Asn397Ser) single nucleotide variant not provided [RCV001897148] Chr1:150338314 [GRCh38]
Chr1:150310790 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2037dup (p.Glu680fs) duplication not provided [RCV002050231] Chr1:150352963..150352964 [GRCh38]
Chr1:150325439..150325440 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.947C>T (p.Ser316Phe) single nucleotide variant not provided [RCV001991015] Chr1:150335153 [GRCh38]
Chr1:150307624 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1985A>G (p.Lys662Arg) single nucleotide variant not provided [RCV001951928] Chr1:150352912 [GRCh38]
Chr1:150325388 [GRCh37]
Chr1:1q21.2		 uncertain significance
NC_000001.10:g.(?_150044213)_(150477474_?)dup duplication Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001920742] Chr1:150044213..150477474 [GRCh37]
Chr1:1q21.2-21.3		 uncertain significance
NM_004698.4(PRPF3):c.1035+5C>T single nucleotide variant not provided [RCV001939794] Chr1:150335246 [GRCh38]
Chr1:150307717 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1891G>A (p.Val631Ile) single nucleotide variant not provided [RCV001883366] Chr1:150349204 [GRCh38]
Chr1:150321680 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1282+6G>A single nucleotide variant not provided [RCV001997825] Chr1:150340483 [GRCh38]
Chr1:150312959 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.235T>G (p.Ser79Ala) single nucleotide variant not provided [RCV001998994] Chr1:150325840 [GRCh38]
Chr1:150298298 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1680T>G (p.Ile560Met) single nucleotide variant not provided [RCV001918264] Chr1:150346057 [GRCh38]
Chr1:150318533 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1991A>G (p.His664Arg) single nucleotide variant not provided [RCV001973691] Chr1:150352918 [GRCh38]
Chr1:150325394 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1787G>T (p.Arg596Leu) single nucleotide variant not provided [RCV001996594] Chr1:150346435 [GRCh38]
Chr1:150318911 [GRCh37]
Chr1:1q21.2		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_004698.4(PRPF3):c.959C>G (p.Ser320Cys) single nucleotide variant not provided [RCV002049753] Chr1:150335165 [GRCh38]
Chr1:150307636 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.665G>A (p.Gly222Glu) single nucleotide variant not provided [RCV002017153] Chr1:150333136 [GRCh38]
Chr1:150305607 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.11C>T (p.Ser4Leu) single nucleotide variant not provided [RCV002046630] Chr1:150324953 [GRCh38]
Chr1:150297411 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1590T>C (p.Ile530=) single nucleotide variant not provided [RCV002210404] Chr1:150344497 [GRCh38]
Chr1:150316973 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1035+15G>C single nucleotide variant not provided [RCV002148781] Chr1:150335256 [GRCh38]
Chr1:150307727 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1479C>G (p.Pro493=) single nucleotide variant PRPF3-related condition [RCV003933499]|not provided [RCV002147799] Chr1:150344214 [GRCh38]
Chr1:150316690 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1427-19T>C single nucleotide variant not provided [RCV002075060] Chr1:150344143 [GRCh38]
Chr1:150316619 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1844-16A>G single nucleotide variant not provided [RCV002170420] Chr1:150349141 [GRCh38]
Chr1:150321617 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.936C>T (p.Asp312=) single nucleotide variant not provided [RCV002206509] Chr1:150335142 [GRCh38]
Chr1:150307613 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.728+16A>G single nucleotide variant not provided [RCV002190923] Chr1:150333215 [GRCh38]
Chr1:150305686 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.424-11del deletion not provided [RCV002189626] Chr1:150332672 [GRCh38]
Chr1:150305143 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.276+14T>C single nucleotide variant not provided [RCV002187030] Chr1:150325895 [GRCh38]
Chr1:150298353 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.534A>G (p.Pro178=) single nucleotide variant not provided [RCV002168986] Chr1:150333005 [GRCh38]
Chr1:150305476 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.459C>T (p.Ile153=) single nucleotide variant not provided [RCV002089732] Chr1:150332719 [GRCh38]
Chr1:150305190 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.966C>T (p.Arg322=) single nucleotide variant not provided [RCV002095712] Chr1:150335172 [GRCh38]
Chr1:150307643 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.723T>C (p.Ala241=) single nucleotide variant not provided [RCV002184919] Chr1:150333194 [GRCh38]
Chr1:150305665 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1551C>T (p.Ala517=) single nucleotide variant not provided [RCV002126143] Chr1:150344458 [GRCh38]
Chr1:150316934 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.145+12del deletion not provided [RCV002196388] Chr1:150325097 [GRCh38]
Chr1:150297555 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.146-7del deletion not provided [RCV002094093] Chr1:150325743 [GRCh38]
Chr1:150298201 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.390A>G (p.Pro130=) single nucleotide variant not provided [RCV002173531] Chr1:150328433 [GRCh38]
Chr1:150300892 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.729-20C>A single nucleotide variant not provided [RCV002080171] Chr1:150334915 [GRCh38]
Chr1:150307386 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.276+12T>C single nucleotide variant not provided [RCV002080180] Chr1:150325893 [GRCh38]
Chr1:150298351 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1306C>T (p.Leu436=) single nucleotide variant not provided [RCV002096762] Chr1:150343332 [GRCh38]
Chr1:150315808 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.508-7C>T single nucleotide variant not provided [RCV002210039] Chr1:150332972 [GRCh38]
Chr1:150305443 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.444A>G (p.Ala148=) single nucleotide variant not provided [RCV002213657] Chr1:150332704 [GRCh38]
Chr1:150305175 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-18T>C single nucleotide variant not provided [RCV002138821] Chr1:150352815 [GRCh38]
Chr1:150325291 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1659C>T (p.Asn553=) single nucleotide variant not provided [RCV002139756] Chr1:150346036 [GRCh38]
Chr1:150318512 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1527-6C>T single nucleotide variant not provided [RCV002121391] Chr1:150344428 [GRCh38]
Chr1:150316904 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.672C>T (p.Ile224=) single nucleotide variant not provided [RCV002183445] Chr1:150333143 [GRCh38]
Chr1:150305614 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.942A>C (p.Arg314=) single nucleotide variant not provided [RCV002136446] Chr1:150335148 [GRCh38]
Chr1:150307619 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.801A>G (p.Ala267=) single nucleotide variant not provided [RCV002155415] Chr1:150335007 [GRCh38]
Chr1:150307478 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1719G>C (p.Val573=) single nucleotide variant not provided [RCV002137110] Chr1:150346096 [GRCh38]
Chr1:150318572 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.889C>T (p.Leu297=) single nucleotide variant not provided [RCV002157716] Chr1:150335095 [GRCh38]
Chr1:150307566 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-19T>A single nucleotide variant not provided [RCV002144385] Chr1:150352814 [GRCh38]
Chr1:150325290 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.508-10T>A single nucleotide variant not provided [RCV002159347] Chr1:150332969 [GRCh38]
Chr1:150305440 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.876A>G (p.Gln292=) single nucleotide variant not provided [RCV002198587] Chr1:150335082 [GRCh38]
Chr1:150307553 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1527-5G>A single nucleotide variant not provided [RCV002200554] Chr1:150344429 [GRCh38]
Chr1:150316905 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1202+16T>C single nucleotide variant not provided [RCV002203821] Chr1:150338342 [GRCh38]
Chr1:150310818 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.792T>C (p.Thr264=) single nucleotide variant not provided [RCV002104165] Chr1:150334998 [GRCh38]
Chr1:150307469 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1202+19C>T single nucleotide variant not provided [RCV002083344] Chr1:150338345 [GRCh38]
Chr1:150310821 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1788T>C (p.Arg596=) single nucleotide variant not provided [RCV002154444] Chr1:150346436 [GRCh38]
Chr1:150318912 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.2013C>T (p.Asp671=) single nucleotide variant not provided [RCV002144307] Chr1:150352940 [GRCh38]
Chr1:150325416 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1101G>A (p.Ser367=) single nucleotide variant not provided [RCV002218077] Chr1:150338225 [GRCh38]
Chr1:150310701 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.108C>T (p.Asn36=) single nucleotide variant not provided [RCV002220047] Chr1:150325050 [GRCh38]
Chr1:150297508 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1539G>A (p.Glu513=) single nucleotide variant not provided [RCV002180565] Chr1:150344446 [GRCh38]
Chr1:150316922 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.87G>A (p.Thr29=) single nucleotide variant not provided [RCV003112638] Chr1:150325029 [GRCh38]
Chr1:150297487 [GRCh37]
Chr1:1q21.2		 likely benign
NC_000001.10:g.(?_150039915)_(150464158_?)dup duplication not provided [RCV003113570] Chr1:150039915..150464158 [GRCh37]
Chr1:1q21.2-21.3		 uncertain significance
NM_004698.4(PRPF3):c.1227_1228delinsTT (p.Glu409_Asp410delinsAspTyr) indel not provided [RCV003152151] Chr1:150340422..150340423 [GRCh38]
Chr1:150312898..150312899 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1279C>T (p.Pro427Ser) single nucleotide variant not provided [RCV002298373] Chr1:150340474 [GRCh38]
Chr1:150312950 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1289A>G (p.Asn430Ser) single nucleotide variant Inborn genetic diseases [RCV002776779] Chr1:150343315 [GRCh38]
Chr1:150315791 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1426+8del deletion not provided [RCV002861443] Chr1:150343458 [GRCh38]
Chr1:150315934 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.974G>A (p.Arg325His) single nucleotide variant not provided [RCV002730256] Chr1:150335180 [GRCh38]
Chr1:150307651 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.335G>A (p.Arg112Gln) single nucleotide variant not provided [RCV002842188] Chr1:150328378 [GRCh38]
Chr1:150300837 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.591dup (p.Asp198Ter) duplication not provided [RCV002843692] Chr1:150333061..150333062 [GRCh38]
Chr1:150305532..150305533 [GRCh37]
Chr1:1q21.2		 pathogenic|uncertain significance
NM_004698.4(PRPF3):c.1426+1G>A single nucleotide variant not provided [RCV002819454] Chr1:150343453 [GRCh38]
Chr1:150315929 [GRCh37]
Chr1:1q21.2		 pathogenic|uncertain significance
NM_004698.4(PRPF3):c.1844-3C>T single nucleotide variant not provided [RCV002839024] Chr1:150349154 [GRCh38]
Chr1:150321630 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1905+6T>C single nucleotide variant not provided [RCV002617116] Chr1:150349224 [GRCh38]
Chr1:150321700 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1618G>T (p.Gly540Trp) single nucleotide variant not provided [RCV002731333] Chr1:150344525 [GRCh38]
Chr1:150317001 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1529C>G (p.Ala510Gly) single nucleotide variant not provided [RCV002614417] Chr1:150344436 [GRCh38]
Chr1:150316912 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.182G>C (p.Arg61Pro) single nucleotide variant not provided [RCV002839308] Chr1:150325787 [GRCh38]
Chr1:150298245 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1164G>A (p.Glu388=) single nucleotide variant not provided [RCV003032605] Chr1:150338288 [GRCh38]
Chr1:150310764 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1760-18A>G single nucleotide variant not provided [RCV003012471] Chr1:150346390 [GRCh38]
Chr1:150318866 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1203-17T>C single nucleotide variant not provided [RCV002750945] Chr1:150340381 [GRCh38]
Chr1:150312857 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1399G>T (p.Gly467Cys) single nucleotide variant not provided [RCV002726919] Chr1:150343425 [GRCh38]
Chr1:150315901 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.43A>G (p.Ile15Val) single nucleotide variant not provided [RCV002948037] Chr1:150324985 [GRCh38]
Chr1:150297443 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.849C>T (p.Ala283=) single nucleotide variant not provided [RCV002617664] Chr1:150335055 [GRCh38]
Chr1:150307526 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1203-19T>G single nucleotide variant not provided [RCV002571143] Chr1:150340379 [GRCh38]
Chr1:150312855 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1036-19T>C single nucleotide variant not provided [RCV003021067] Chr1:150338141 [GRCh38]
Chr1:150310617 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.267A>G (p.Arg89=) single nucleotide variant not provided [RCV002639874] Chr1:150325872 [GRCh38]
Chr1:150298330 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.787C>T (p.Arg263Cys) single nucleotide variant Inborn genetic diseases [RCV002910873] Chr1:150334993 [GRCh38]
Chr1:150307464 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1427-13C>G single nucleotide variant not provided [RCV002949365] Chr1:150344149 [GRCh38]
Chr1:150316625 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1870G>A (p.Val624Met) single nucleotide variant not provided [RCV002591901] Chr1:150349183 [GRCh38]
Chr1:150321659 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.928T>A (p.Phe310Ile) single nucleotide variant Inborn genetic diseases [RCV002692052] Chr1:150335134 [GRCh38]
Chr1:150307605 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.204G>C (p.Glu68Asp) single nucleotide variant not provided [RCV002948343] Chr1:150325809 [GRCh38]
Chr1:150298267 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.344G>A (p.Arg115His) single nucleotide variant not provided [RCV002705407] Chr1:150328387 [GRCh38]
Chr1:150300846 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1855T>A (p.Ser619Thr) single nucleotide variant not provided [RCV002843943] Chr1:150349168 [GRCh38]
Chr1:150321644 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.462G>A (p.Glu154=) single nucleotide variant not provided [RCV003036920] Chr1:150332722 [GRCh38]
Chr1:150305193 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1404G>T (p.Leu468=) single nucleotide variant not provided [RCV002927249] Chr1:150343430 [GRCh38]
Chr1:150315906 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1905+6T>G single nucleotide variant not provided [RCV002894900] Chr1:150349224 [GRCh38]
Chr1:150321700 [GRCh37]
Chr1:1q21.2		 likely benign|uncertain significance
NM_004698.4(PRPF3):c.1133A>G (p.Glu378Gly) single nucleotide variant not provided [RCV002851873] Chr1:150338257 [GRCh38]
Chr1:150310733 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.959C>T (p.Ser320Phe) single nucleotide variant not provided [RCV002982518] Chr1:150335165 [GRCh38]
Chr1:150307636 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1282+18G>A single nucleotide variant not provided [RCV002765553] Chr1:150340495 [GRCh38]
Chr1:150312971 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.2019G>T (p.Ala673=) single nucleotide variant not provided [RCV002829166] Chr1:150352946 [GRCh38]
Chr1:150325422 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1523A>T (p.Gln508Leu) single nucleotide variant not provided [RCV002625766] Chr1:150344258 [GRCh38]
Chr1:150316734 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1844-15A>C single nucleotide variant not provided [RCV003023053] Chr1:150349142 [GRCh38]
Chr1:150321618 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.507+12A>G single nucleotide variant not provided [RCV003023900] Chr1:150332779 [GRCh38]
Chr1:150305250 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV003040132] Chr1:150332743 [GRCh38]
Chr1:150305214 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-14dup duplication not provided [RCV002572479] Chr1:150352818..150352819 [GRCh38]
Chr1:150325294..150325295 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1524G>A (p.Gln508=) single nucleotide variant not provided [RCV002828902] Chr1:150344259 [GRCh38]
Chr1:150316735 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.814A>G (p.Ile272Val) single nucleotide variant not provided [RCV003023019] Chr1:150335020 [GRCh38]
Chr1:150307491 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1180A>G (p.Ile394Val) single nucleotide variant not provided [RCV002931961] Chr1:150338304 [GRCh38]
Chr1:150310780 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2027A>G (p.Glu676Gly) single nucleotide variant Inborn genetic diseases [RCV002930952] Chr1:150352954 [GRCh38]
Chr1:150325430 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1117A>G (p.Ile373Val) single nucleotide variant not provided [RCV002982242] Chr1:150338241 [GRCh38]
Chr1:150310717 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1759+18G>T single nucleotide variant not provided [RCV002852201] Chr1:150346154 [GRCh38]
Chr1:150318630 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1931G>C (p.Gly644Ala) single nucleotide variant Inborn genetic diseases [RCV002826743] Chr1:150352858 [GRCh38]
Chr1:150325334 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1277C>T (p.Pro426Leu) single nucleotide variant not provided [RCV003083612] Chr1:150340472 [GRCh38]
Chr1:150312948 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.367C>A (p.Pro123Thr) single nucleotide variant not provided [RCV002801095] Chr1:150328410 [GRCh38]
Chr1:150300869 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.145+4T>A single nucleotide variant not provided [RCV002716102] Chr1:150325091 [GRCh38]
Chr1:150297549 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2019G>A (p.Ala673=) single nucleotide variant Retinal dystrophy [RCV003889127]|not provided [RCV002601233] Chr1:150352946 [GRCh38]
Chr1:150325422 [GRCh37]
Chr1:1q21.2		 benign|likely benign
NM_004698.4(PRPF3):c.714G>A (p.Met238Ile) single nucleotide variant not provided [RCV002716636] Chr1:150333185 [GRCh38]
Chr1:150305656 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.891A>G (p.Leu297=) single nucleotide variant not provided [RCV002577025] Chr1:150335097 [GRCh38]
Chr1:150307568 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1760-15C>T single nucleotide variant not provided [RCV002670912] Chr1:150346393 [GRCh38]
Chr1:150318869 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1231T>A (p.Tyr411Asn) single nucleotide variant not provided [RCV002834066] Chr1:150340426 [GRCh38]
Chr1:150312902 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1203-15T>C single nucleotide variant not provided [RCV003026678] Chr1:150340383 [GRCh38]
Chr1:150312859 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.146-20A>G single nucleotide variant not provided [RCV002856273] Chr1:150325731 [GRCh38]
Chr1:150298189 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-16T>C single nucleotide variant not provided [RCV002646276] Chr1:150352817 [GRCh38]
Chr1:150325293 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.277-5C>T single nucleotide variant not provided [RCV002646790] Chr1:150328315 [GRCh38]
Chr1:150300774 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.2030C>T (p.Ser677Phe) single nucleotide variant not provided [RCV003045053] Chr1:150352957 [GRCh38]
Chr1:150325433 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1416A>T (p.Pro472=) single nucleotide variant not provided [RCV002675983] Chr1:150343442 [GRCh38]
Chr1:150315918 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.424-20A>G single nucleotide variant not provided [RCV002720599] Chr1:150332664 [GRCh38]
Chr1:150305135 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.544C>T (p.Pro182Ser) single nucleotide variant not provided [RCV002791916] Chr1:150333015 [GRCh38]
Chr1:150305486 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1413T>C (p.Pro471=) single nucleotide variant not provided [RCV002898861] Chr1:150343439 [GRCh38]
Chr1:150315915 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1627A>G (p.Ile543Val) single nucleotide variant not provided [RCV002601109] Chr1:150344534 [GRCh38]
Chr1:150317010 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.146-18C>T single nucleotide variant not provided [RCV002645834] Chr1:150325733 [GRCh38]
Chr1:150298191 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.423+7G>A single nucleotide variant not provided [RCV002806428] Chr1:150328473 [GRCh38]
Chr1:150300932 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-16T>C single nucleotide variant not provided [RCV002856555] Chr1:150343293 [GRCh38]
Chr1:150315769 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.146-5G>T single nucleotide variant not provided [RCV002721519] Chr1:150325746 [GRCh38]
Chr1:150298204 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.182G>A (p.Arg61Gln) single nucleotide variant not provided [RCV002588941] Chr1:150325787 [GRCh38]
Chr1:150298245 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1831A>G (p.Thr611Ala) single nucleotide variant not provided [RCV003092502] Chr1:150346479 [GRCh38]
Chr1:150318955 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.705C>T (p.Leu235=) single nucleotide variant Retinal dystrophy [RCV003889143]|not provided [RCV002653922] Chr1:150333176 [GRCh38]
Chr1:150305647 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1200T>C (p.Asp400=) single nucleotide variant not provided [RCV002943739] Chr1:150338324 [GRCh38]
Chr1:150310800 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.399C>T (p.Ser133=) single nucleotide variant not provided [RCV002587689] Chr1:150328442 [GRCh38]
Chr1:150300901 [GRCh37]
Chr1:1q21.2		 likely benign
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_004698.4(PRPF3):c.922A>C (p.Asn308His) single nucleotide variant not provided [RCV003332664] Chr1:150335128 [GRCh38]
Chr1:150307599 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1748T>C (p.Val583Ala) single nucleotide variant Inborn genetic diseases [RCV003361893] Chr1:150346125 [GRCh38]
Chr1:150318601 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1283-1G>A single nucleotide variant not provided [RCV003570663] Chr1:150343308 [GRCh38]
Chr1:150315784 [GRCh37]
Chr1:1q21.2		 likely pathogenic
NM_004698.4(PRPF3):c.1283-59T>A single nucleotide variant not provided [RCV003408852] Chr1:150343250 [GRCh38]
Chr1:150315726 [GRCh37]
Chr1:1q21.2		 benign
NM_004698.4(PRPF3):c.1655G>A (p.Ser552Asn) single nucleotide variant not provided [RCV003830029] Chr1:150346032 [GRCh38]
Chr1:150318508 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV003848945] Chr1:150335127 [GRCh38]
Chr1:150307598 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1426+4C>T single nucleotide variant not provided [RCV003577996] Chr1:150343456 [GRCh38]
Chr1:150315932 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.499A>G (p.Thr167Ala) single nucleotide variant not provided [RCV003829808] Chr1:150332759 [GRCh38]
Chr1:150305230 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1205C>G (p.Thr402Arg) single nucleotide variant not provided [RCV003572148] Chr1:150340400 [GRCh38]
Chr1:150312876 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1132G>A (p.Glu378Lys) single nucleotide variant not provided [RCV003830968] Chr1:150338256 [GRCh38]
Chr1:150310732 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.127G>A (p.Asp43Asn) single nucleotide variant not provided [RCV003713840] Chr1:150325069 [GRCh38]
Chr1:150297527 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1843+20G>A single nucleotide variant not provided [RCV003697996] Chr1:150346511 [GRCh38]
Chr1:150318987 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1701G>A (p.Leu567=) single nucleotide variant not provided [RCV003717719] Chr1:150346078 [GRCh38]
Chr1:150318554 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1283-9G>A single nucleotide variant not provided [RCV003699612] Chr1:150343300 [GRCh38]
Chr1:150315776 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.840T>C (p.Thr280=) single nucleotide variant not provided [RCV003724414] Chr1:150335046 [GRCh38]
Chr1:150307517 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.627G>A (p.Leu209=) single nucleotide variant not provided [RCV003851003] Chr1:150333098 [GRCh38]
Chr1:150305569 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1906-11C>T single nucleotide variant not provided [RCV003698479] Chr1:150352822 [GRCh38]
Chr1:150325298 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1179C>T (p.Tyr393=) single nucleotide variant not provided [RCV003672011] Chr1:150338303 [GRCh38]
Chr1:150310779 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.292G>A (p.Asp98Asn) single nucleotide variant not provided [RCV003668212] Chr1:150328335 [GRCh38]
Chr1:150300794 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.2018C>G (p.Ala673Gly) single nucleotide variant not provided [RCV003668752] Chr1:150352945 [GRCh38]
Chr1:150325421 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.753G>A (p.Thr251=) single nucleotide variant Retinal dystrophy [RCV003889312]|not provided [RCV003664960] Chr1:150334959 [GRCh38]
Chr1:150307430 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1545C>T (p.Asn515=) single nucleotide variant not provided [RCV003729768] Chr1:150344452 [GRCh38]
Chr1:150316928 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1467T>C (p.Ala489=) single nucleotide variant not provided [RCV003679853] Chr1:150344202 [GRCh38]
Chr1:150316678 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1482G>A (p.Thr494=) single nucleotide variant not provided [RCV003556782] Chr1:150344217 [GRCh38]
Chr1:150316693 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1759+20G>C single nucleotide variant not provided [RCV003705683] Chr1:150346156 [GRCh38]
Chr1:150318632 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.728C>T (p.Pro243Leu) single nucleotide variant not provided [RCV003843138] Chr1:150333199 [GRCh38]
Chr1:150305670 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1313T>C (p.Val438Ala) single nucleotide variant not provided [RCV003566158] Chr1:150343339 [GRCh38]
Chr1:150315815 [GRCh37]
Chr1:1q21.2		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_004698.4(PRPF3):c.487A>G (p.Ile163Val) single nucleotide variant not provided [RCV003866870] Chr1:150332747 [GRCh38]
Chr1:150305218 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1035+9C>T single nucleotide variant not provided [RCV003679268] Chr1:150335250 [GRCh38]
Chr1:150307721 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1717G>T (p.Val573Leu) single nucleotide variant not provided [RCV003734716] Chr1:150346094 [GRCh38]
Chr1:150318570 [GRCh37]
Chr1:1q21.2		 uncertain significance
GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1 copy number loss not specified [RCV003986097] Chr1:149713775..150385573 [GRCh37]
Chr1:1q21.2-21.3		 pathogenic
NM_004698.4(PRPF3):c.2000A>T (p.Glu667Val) single nucleotide variant not provided [RCV003869206] Chr1:150352927 [GRCh38]
Chr1:150325403 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1906-7T>C single nucleotide variant not provided [RCV003555653] Chr1:150352826 [GRCh38]
Chr1:150325302 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.414T>C (p.Thr138=) single nucleotide variant not provided [RCV003680951] Chr1:150328457 [GRCh38]
Chr1:150300916 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.951T>C (p.Ile317=) single nucleotide variant not provided [RCV003708372] Chr1:150335157 [GRCh38]
Chr1:150307628 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1027C>T (p.Arg343Trp) single nucleotide variant not provided [RCV003736149] Chr1:150335233 [GRCh38]
Chr1:150307704 [GRCh37]
Chr1:1q21.2		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_004698.4(PRPF3):c.298G>C (p.Glu100Gln) single nucleotide variant not provided [RCV003564470] Chr1:150328341 [GRCh38]
Chr1:150300800 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.518C>T (p.Pro173Leu) single nucleotide variant not provided [RCV003683530] Chr1:150332989 [GRCh38]
Chr1:150305460 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.276+10A>G single nucleotide variant not provided [RCV003676877] Chr1:150325891 [GRCh38]
Chr1:150298349 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.1788T>A (p.Arg596=) single nucleotide variant not provided [RCV003678016] Chr1:150346436 [GRCh38]
Chr1:150318912 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.2002C>T (p.His668Tyr) single nucleotide variant not provided [RCV003846630] Chr1:150352929 [GRCh38]
Chr1:150325405 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1381C>G (p.Gln461Glu) single nucleotide variant Retinal dystrophy [RCV003889320]|not provided [RCV003678444] Chr1:150343407 [GRCh38]
Chr1:150315883 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1843+18G>A single nucleotide variant not provided [RCV003566710] Chr1:150346509 [GRCh38]
Chr1:150318985 [GRCh37]
Chr1:1q21.2		 likely benign
NM_004698.4(PRPF3):c.497C>G (p.Pro166Arg) single nucleotide variant Retinal dystrophy [RCV003889545] Chr1:150332757 [GRCh38]
Chr1:150305228 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1477C>G (p.Pro493Ala) single nucleotide variant Retinal dystrophy [RCV003889577] Chr1:150344212 [GRCh38]
Chr1:150316688 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.969G>C (p.Gln323His) single nucleotide variant Retinal dystrophy [RCV003889556] Chr1:150335175 [GRCh38]
Chr1:150307646 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.1346G>A (p.Arg449Gln) single nucleotide variant Retinal dystrophy [RCV003889561] Chr1:150343372 [GRCh38]
Chr1:150315848 [GRCh37]
Chr1:1q21.2		 uncertain significance
NM_004698.4(PRPF3):c.493C>G (p.Pro165Ala) single nucleotide variant Retinal dystrophy [RCV003889543] Chr1:150332753 [GRCh38]
Chr1:150305224 [GRCh37]
Chr1:1q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1226
Count of miRNA genes:638
Interacting mature miRNAs:733
Transcripts:ENST00000324862, ENST00000414970, ENST00000467329, ENST00000467514, ENST00000470824, ENST00000476970, ENST00000493553, ENST00000496202, ENST00000543398
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.

Markers in Region
D10S1692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,588,865 - 104,589,063UniSTSGRCh37
GRCh371150,315,664 - 150,316,167UniSTSGRCh37
Build 3610104,578,855 - 104,579,053RGDNCBI36
Celera1098,329,587 - 98,329,785RGD
Celera1123,431,413 - 123,431,915UniSTS
Cytogenetic Map10q24.1-q25.1UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1121,694,386 - 121,694,889UniSTS
HuRef1098,223,682 - 98,223,874UniSTS
Marshfield Genetic Map10125.41UniSTS
Marshfield Genetic Map10125.41RGD
Genethon Genetic Map10131.9UniSTS
D1S498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,301,564 - 151,301,754UniSTSGRCh37
Build 361149,568,188 - 149,568,378RGDNCBI36
Celera1124,416,855 - 124,417,045RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1122,679,506 - 122,679,696UniSTS
Marshfield Genetic Map1155.89RGD
Marshfield Genetic Map1155.89UniSTS
Genethon Genetic Map1160.7UniSTS
deCODE Assembly Map1144.94UniSTS
GeneMap99-GB4 RH Map1542.18UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1960.8UniSTS
D1S2858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,044,431 - 154,044,557UniSTSGRCh37
GRCh3713109,999,042 - 109,999,220UniSTSGRCh37
Build 361152,311,055 - 152,311,181RGDNCBI36
Celera1390,843,541 - 90,843,719UniSTS
Celera1127,116,170 - 127,116,296RGD
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1125,406,650 - 125,406,776UniSTS
HuRef696,213,215 - 96,213,424UniSTS
Marshfield Genetic Map1159.32UniSTS
Marshfield Genetic Map1159.32RGD
Genethon Genetic Map1163.5UniSTS
deCODE Assembly Map1147.19UniSTS
GeneMap99-GB4 RH Map1554.37UniSTS
NCBI RH Map11357.8UniSTS
D1S422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371191,378,851 - 191,379,009UniSTSGRCh37
GRCh371191,378,843 - 191,379,079UniSTSGRCh37
Build 361189,645,474 - 189,645,632RGDNCBI36
Celera1164,487,458 - 164,487,618RGD
Celera1164,487,450 - 164,487,688UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1162,614,119 - 162,614,279UniSTS
HuRef1162,614,111 - 162,614,349UniSTS
Marshfield Genetic Map1205.4UniSTS
Marshfield Genetic Map1205.4RGD
Genethon Genetic Map1209.4UniSTS
TNG Radiation Hybrid Map192610.0UniSTS
deCODE Assembly Map1190.42UniSTS
Stanford-G3 RH Map17507.0UniSTS
GeneMap99-GB4 RH Map1645.13UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11596.8UniSTS
GeneMap99-G3 RH Map17463.0UniSTS
D1S2345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,533,352 - 151,533,500UniSTSGRCh37
Build 361149,799,976 - 149,800,124RGDNCBI36
Celera1124,648,496 - 124,648,640RGD
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1q21UniSTS
HuRef1122,910,788 - 122,910,932UniSTS
Marshfield Genetic Map1155.89UniSTS
Marshfield Genetic Map1155.89RGD
Genethon Genetic Map1160.8UniSTS
deCODE Assembly Map1145.45UniSTS
A006E14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37867,896,227 - 67,896,324UniSTSGRCh37
GRCh371150,325,499 - 150,325,600UniSTSGRCh37
Build 361148,592,123 - 148,592,224RGDNCBI36
Celera1123,441,259 - 123,441,360RGD
Celera863,889,647 - 63,889,744UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map8q13.1UniSTS
HuRef863,388,987 - 63,389,084UniSTS
HuRef1121,704,238 - 121,704,339UniSTS
GeneMap99-GB4 RH Map8346.11UniSTS
PRPF3_8902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,325,339 - 150,325,865UniSTSGRCh37
Build 361148,591,963 - 148,592,489RGDNCBI36
Celera1123,441,099 - 123,441,625RGD
HuRef1121,704,078 - 121,704,604UniSTS
G32330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,325,499 - 150,325,600UniSTSGRCh37
Celera1123,441,259 - 123,441,360UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1121,704,238 - 121,704,339UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2408 2224 1646 552 1690 395 3914 1387 2743 331 1441 1600 170 1204 2348 4
Low 27 763 80 71 261 69 441 808 980 87 14 11 3 1 440 1 1
Below cutoff 1 1 1 9 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA806093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC242988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL611942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG740159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM799783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ002848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ932459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX871870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA920350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC337198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324862   ⟹   ENSP00000315379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,321,533 - 150,353,233 (+)Ensembl
RefSeq Acc Id: ENST00000467329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,327,775 - 150,353,195 (+)Ensembl
RefSeq Acc Id: ENST00000467514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,329,752 - 150,334,979 (+)Ensembl
RefSeq Acc Id: ENST00000470824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,348,684 - 150,353,195 (+)Ensembl
RefSeq Acc Id: ENST00000476970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,345,540 - 150,349,209 (+)Ensembl
RefSeq Acc Id: ENST00000493553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,343,151 - 150,344,375 (+)Ensembl
RefSeq Acc Id: ENST00000496202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,321,479 - 150,335,030 (+)Ensembl
RefSeq Acc Id: NM_001350529   ⟹   NP_001337458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,353,228 (+)NCBI
T2T-CHM13v2.01149,446,460 - 149,478,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004698   ⟹   NP_004689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,533 - 150,353,233 (+)NCBI
GRCh371150,293,928 - 150,325,704 (+)ENTREZGENE
GRCh371150,293,928 - 150,325,704 (+)NCBI
Build 361148,560,642 - 148,592,295 (+)NCBI Archive
HuRef1121,672,548 - 121,704,443 (+)ENTREZGENE
CHM1_11151,689,605 - 151,721,359 (+)NCBI
T2T-CHM13v2.01149,446,525 - 149,478,314 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146766
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,353,228 (+)NCBI
T2T-CHM13v2.01149,446,460 - 149,478,309 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146767
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,353,228 (+)NCBI
T2T-CHM13v2.01149,446,460 - 149,478,309 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146768
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,353,228 (+)NCBI
T2T-CHM13v2.01149,446,460 - 149,478,309 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146769
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,353,228 (+)NCBI
T2T-CHM13v2.01149,446,460 - 149,478,309 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510130   ⟹   XP_011508432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,330,452 - 150,353,233 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510131   ⟹   XP_011508433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,342,147 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510132   ⟹   XP_011508434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,342,149 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002791   ⟹   XP_016858280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,342,152 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433995   ⟹   XP_047289951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,533 - 150,353,233 (+)NCBI
RefSeq Acc Id: XM_047434009   ⟹   XP_047289965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,343,376 (+)NCBI
RefSeq Acc Id: XM_054339560   ⟹   XP_054195535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,580 - 149,478,314 (+)NCBI
RefSeq Acc Id: XM_054339561   ⟹   XP_054195536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,455,467 - 149,478,314 (+)NCBI
RefSeq Acc Id: XM_054339562   ⟹   XP_054195537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,467,170 (+)NCBI
RefSeq Acc Id: XM_054339563   ⟹   XP_054195538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,467,172 (+)NCBI
RefSeq Acc Id: XM_054339564   ⟹   XP_054195539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,468,428 (+)NCBI
RefSeq Acc Id: XM_054339565   ⟹   XP_054195540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,467,175 (+)NCBI
RefSeq Acc Id: XR_007064872
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,349,218 (+)NCBI
RefSeq Acc Id: XR_007064873
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,468 - 150,349,196 (+)NCBI
RefSeq Acc Id: XR_008486204
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,474,291 (+)NCBI
RefSeq Acc Id: XR_008486205
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,446,460 - 149,474,269 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004689   ⟸   NM_004698
- Peptide Label: isoform 1
- UniProtKB: O43446 (UniProtKB/Swiss-Prot),   B4DSY9 (UniProtKB/Swiss-Prot),   Q5VT54 (UniProtKB/Swiss-Prot),   O43395 (UniProtKB/Swiss-Prot),   B2R791 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508434   ⟸   XM_011510132
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011508433   ⟸   XM_011510131
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508432   ⟸   XM_011510130
- Peptide Label: isoform X2
- UniProtKB: B4DM28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858280   ⟸   XM_017002791
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001337458   ⟸   NM_001350529
- Peptide Label: isoform 2
- UniProtKB: B4DM28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000315379   ⟸   ENST00000324862
RefSeq Acc Id: XP_047289965   ⟸   XM_047434009
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047289951   ⟸   XM_047433995
- Peptide Label: isoform X1
- UniProtKB: O43446 (UniProtKB/Swiss-Prot),   O43395 (UniProtKB/Swiss-Prot),   B4DSY9 (UniProtKB/Swiss-Prot),   Q5VT54 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054195539   ⟸   XM_054339564
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054195540   ⟸   XM_054339565
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054195538   ⟸   XM_054339563
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195537   ⟸   XM_054339562
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195535   ⟸   XM_054339560
- Peptide Label: isoform X1
- UniProtKB: O43446 (UniProtKB/Swiss-Prot),   O43395 (UniProtKB/Swiss-Prot),   B4DSY9 (UniProtKB/Swiss-Prot),   Q5VT54 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054195536   ⟸   XM_054339561
- Peptide Label: isoform X2
Protein Domains
PWI

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43395-F1-model_v2 AlphaFold O43395 1-683 view protein structure

Promoters
RGD ID:6786322
Promoter ID:HG_KWN:4919
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000035836,   UC009WLO.1,   UC009WLP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,560,431 - 148,560,931 (+)MPROMDB
RGD ID:6856972
Promoter ID:EPDNEW_H1651
Type:initiation region
Name:PRPF3_1
Description:pre-mRNA processing factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,321,553 - 150,321,613EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17348 AgrOrtholog
COSMIC PRPF3 COSMIC
Ensembl Genes ENSG00000117360 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324862 ENTREZGENE
  ENST00000324862.7 UniProtKB/Swiss-Prot
Gene3D-CATH PWI domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117360 GTEx
HGNC ID HGNC:17348 ENTREZGENE
Human Proteome Map PRPF3 Human Proteome Map
InterPro DUF1115 UniProtKB/Swiss-Prot
  Pre-mRNA_splic_Prp3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prp3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prp3_C UniProtKB/TrEMBL
  PWI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWI_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9129 UniProtKB/Swiss-Prot
NCBI Gene 9129 ENTREZGENE
OMIM 607301 OMIM
PANTHER PTHR14212 UniProtKB/Swiss-Prot
  U4/U6 SMALL NUCLEAR RIBONUCLEOPROTEIN PRP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U4/U6-ASSOCIATED RNA SPLICING FACTOR-RELATED UniProtKB/TrEMBL
Pfam DUF1115 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRP3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134892509 PharmGKB
PROSITE PWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PWI domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B2R791 ENTREZGENE, UniProtKB/TrEMBL
  B4DM28 ENTREZGENE, UniProtKB/TrEMBL
  B4DSY9 ENTREZGENE
  O43395 ENTREZGENE
  O43446 ENTREZGENE
  PRPF3_HUMAN UniProtKB/Swiss-Prot
  Q5VT54 ENTREZGENE
UniProt Secondary B4DSY9 UniProtKB/Swiss-Prot
  O43446 UniProtKB/Swiss-Prot
  Q5VT54 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-18 PRPF3  pre-mRNA processing factor 3  PRPF3  PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED