PRPF4 (pre-mRNA splicing tri-snRNP complex factor PRPF4) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PRPF4 (pre-mRNA splicing tri-snRNP complex factor PRPF4) Homo sapiens
Analyze
Symbol: PRPF4
Name: pre-mRNA splicing tri-snRNP complex factor PRPF4
RGD ID: 1322687
HGNC Page HGNC:17349
Description: Predicted to enable U4 snRNA binding activity and U6 snRNA binding activity. Involved in mRNA splicing, via spliceosome. Located in Cajal body and nuclear speck. Part of U2-type precatalytic spliceosome; U4/U6 snRNP; and U4/U6 x U5 tri-snRNP complex. Implicated in retinitis pigmentosa 70.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HPRP4; HPRP4P; pre-mRNA processing factor 4; PRP4; PRP4 homolog; PRP4 pre-mRNA processing factor 4 homolog; PRP4/STK/WD splicing factor; Prp4p; RP70; SNRNP60; U4/U6 small nuclear ribonucleoprotein Prp4; U4/U6 snRNP 60 kDa protein; WD splicing factor Prp4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389113,275,658 - 113,292,905 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9113,275,642 - 113,294,009 (+)EnsemblGRCh38hg38GRCh38
GRCh379116,037,938 - 116,055,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,077,795 - 115,094,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 349113,117,527 - 113,134,608NCBI
Celera986,685,588 - 86,702,671 (+)NCBICelera
Cytogenetic Map9q32NCBI
HuRef985,645,378 - 85,662,571 (+)NCBIHuRef
CHM1_19116,184,652 - 116,201,881 (+)NCBICHM1_1
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. 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:9000057   PMID:9257651   PMID:9328476   PMID:9404889   PMID:9521884   PMID:9570313   PMID:11350945   PMID:11971898   PMID:11971955   PMID:12226669   PMID:12477932  
PMID:12875835   PMID:12907720   PMID:15257298   PMID:15452143   PMID:15452250   PMID:15489334   PMID:15635413   PMID:15761153   PMID:16055720   PMID:16169070   PMID:16196087   PMID:16226712  
PMID:16344560   PMID:16723661   PMID:17513757   PMID:17620599   PMID:17643375   PMID:17998396   PMID:18029348   PMID:18687998   PMID:19615732   PMID:19738201   PMID:20360068   PMID:21081503  
PMID:21139048   PMID:21145461   PMID:21832049   PMID:21873635   PMID:21890473   PMID:22365833   PMID:22446626   PMID:22863883   PMID:22939629   PMID:23349634   PMID:23443559   PMID:23602568  
PMID:23667531   PMID:23793891   PMID:24003220   PMID:24419317   PMID:24654937   PMID:24711643   PMID:24981860   PMID:25383878   PMID:25544563   PMID:25921289   PMID:26030138   PMID:26344197  
PMID:26496610   PMID:26527279   PMID:26627737   PMID:26673895   PMID:27173435   PMID:27684187   PMID:27880917   PMID:28077445   PMID:28276505   PMID:28302793   PMID:28514442   PMID:28515276  
PMID:28561026   PMID:28655764   PMID:28700943   PMID:28781166   PMID:28878014   PMID:28935721   PMID:28977666   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29509190  
PMID:29787735   PMID:29802200   PMID:29845934   PMID:29955894   PMID:29997244   PMID:30209976   PMID:30404004   PMID:30413534   PMID:30415952   PMID:30463901   PMID:30561431   PMID:30804502  
PMID:30884312   PMID:30890647   PMID:30948266   PMID:30975767   PMID:31076518   PMID:31091453   PMID:31298480   PMID:31343991   PMID:31445970   PMID:31519766   PMID:31586073   PMID:31753913  
PMID:31822558   PMID:31980649   PMID:32416067   PMID:32640226   PMID:32707033   PMID:32780723   PMID:32807901   PMID:33022573   PMID:33226137   PMID:33239621   PMID:33306668   PMID:33536335  
PMID:33729478   PMID:33731348   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34349018   PMID:34373451   PMID:34578187   PMID:34795231   PMID:35253629   PMID:35256949   PMID:35271311  
PMID:35439318   PMID:35509820   PMID:35545047   PMID:35831314   PMID:35850772   PMID:35915203   PMID:35944360   PMID:36215168   PMID:36373674   PMID:36526897   PMID:36604567   PMID:36912080  
PMID:37071664   PMID:37071682   PMID:37223481   PMID:37689310   PMID:37866880   PMID:38113892   PMID:38697112  


Genomics

Comparative Map Data
PRPF4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389113,275,658 - 113,292,905 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9113,275,642 - 113,294,009 (+)EnsemblGRCh38hg38GRCh38
GRCh379116,037,938 - 116,055,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,077,795 - 115,094,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 349113,117,527 - 113,134,608NCBI
Celera986,685,588 - 86,702,671 (+)NCBICelera
Cytogenetic Map9q32NCBI
HuRef985,645,378 - 85,662,571 (+)NCBIHuRef
CHM1_19116,184,652 - 116,201,881 (+)NCBICHM1_1
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBIT2T-CHM13v2.0
Prpf4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39462,327,002 - 62,345,227 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl462,327,034 - 62,345,227 (+)EnsemblGRCm39 Ensembl
GRCm38462,408,762 - 62,426,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl462,408,797 - 62,426,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv37462,069,817 - 62,088,024 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36461,895,144 - 61,913,351 (+)NCBIMGSCv36mm8
Celera461,078,790 - 61,096,997 (+)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.13NCBI
Prpf4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8580,875,511 - 80,889,501 (+)NCBIGRCr8
mRatBN7.2575,859,934 - 75,873,924 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl575,859,924 - 75,873,919 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx578,259,638 - 78,273,565 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0580,076,735 - 80,090,662 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0580,052,244 - 80,066,171 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0578,267,248 - 78,281,172 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl578,267,248 - 78,281,172 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0582,386,980 - 82,400,904 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4579,403,879 - 79,417,803 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1579,409,026 - 79,422,982 (+)NCBI
Celera574,801,540 - 74,815,464 (+)NCBICelera
Cytogenetic Map5q24NCBI
Prpf4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541914,190,152 - 14,206,086 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541914,190,146 - 14,206,086 (-)NCBIChiLan1.0ChiLan1.0
PRPF4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21126,085,043 - 26,102,372 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1926,084,152 - 26,104,646 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0984,373,457 - 84,390,622 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19112,745,455 - 112,763,725 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9112,745,455 - 112,763,725 (+)Ensemblpanpan1.1panPan2
PRPF4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11167,641,332 - 67,659,070 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1167,641,459 - 67,657,870 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,046,127 - 66,063,767 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01168,766,195 - 68,783,840 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1168,766,284 - 68,785,517 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11167,283,802 - 67,301,437 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01167,305,942 - 67,323,360 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01168,051,720 - 68,069,410 (+)NCBIUU_Cfam_GSD_1.0
Prpf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947182,945,462 - 182,961,106 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936559305,392 - 321,080 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936559305,443 - 321,051 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPF4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1253,906,717 - 253,925,046 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11253,906,258 - 253,925,683 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21284,659,940 - 284,677,112 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPF4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11226,279,510 - 26,296,771 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603516,504,524 - 16,523,004 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prpf4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476021,805,035 - 21,820,402 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476021,803,740 - 21,820,492 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRPF4
291 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) single nucleotide variant Retinitis pigmentosa 70 [RCV000132564]|not provided [RCV001268585] Chr9:113288183 [GRCh38]
Chr9:116050463 [GRCh37]
Chr9:9q32
pathogenic|likely pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_004697.4(PRPF4):c.627C>T (p.Ser209=) single nucleotide variant Malignant melanoma [RCV000068497] Chr9:113283452 [GRCh38]
Chr9:116045732 [GRCh37]
Chr9:115085553 [NCBI36]
Chr9:9q32
not provided
NM_001244926.2(PRPF4):c.654+4A>T single nucleotide variant Retinitis pigmentosa 70 [RCV001331292]|not provided [RCV001366399] Chr9:113283486 [GRCh38]
Chr9:116045766 [GRCh37]
Chr9:9q32
uncertain significance
NM_004697.4(PRPF4):c.-114_-97del microsatellite Retinitis pigmentosa 70 [RCV000132565]|not provided [RCV001849950]|not specified [RCV002247512] Chr9:113275630..113275647 [GRCh38]
Chr9:116037910..116037927 [GRCh37]
Chr9:9q32
pathogenic|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q32(chr9:113058848-113725516)x3 copy number gain See cases [RCV000135719] Chr9:113058848..113725516 [GRCh38]
Chr9:115821128..116487796 [GRCh37]
Chr9:114860949..115527617 [NCBI36]
Chr9:9q32
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32(chr9:116044980-116060890)x3 copy number gain See cases [RCV000446424] Chr9:116044980..116060890 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001244926.2(PRPF4):c.230A>G (p.His77Arg) single nucleotide variant not provided [RCV000971113]|not specified [RCV001700959] Chr9:113278969 [GRCh38]
Chr9:116041249 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1521C>T (p.Ala507=) single nucleotide variant PRPF4-related disorder [RCV003895502]|not provided [RCV000902959] Chr9:113291615 [GRCh38]
Chr9:116053895 [GRCh37]
Chr9:9q32
benign|likely benign
NM_001244926.2(PRPF4):c.552G>A (p.Ser184=) single nucleotide variant not provided [RCV000919879] Chr9:113283203 [GRCh38]
Chr9:116045483 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.556C>G (p.Pro186Ala) single nucleotide variant Retinal dystrophy [RCV001073227] Chr9:113283207 [GRCh38]
Chr9:116045487 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.49G>A (p.Asp17Asn) single nucleotide variant not provided [RCV001046955] Chr9:113276569 [GRCh38]
Chr9:116038849 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001244926.2(PRPF4):c.297T>C (p.Asn99=) single nucleotide variant PRPF4-related disorder [RCV003910779]|not provided [RCV000902957] Chr9:113279036 [GRCh38]
Chr9:116041316 [GRCh37]
Chr9:9q32
benign|likely benign
NM_001244926.2(PRPF4):c.809-7C>T single nucleotide variant PRPF4-related disorder [RCV003910780]|not provided [RCV000902958] Chr9:113286698 [GRCh38]
Chr9:116048978 [GRCh37]
Chr9:9q32
benign|likely benign
NM_001244926.2(PRPF4):c.1470C>T (p.His490=) single nucleotide variant not provided [RCV000931358] Chr9:113291564 [GRCh38]
Chr9:116053844 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1215C>T (p.His405=) single nucleotide variant not provided [RCV000900833] Chr9:113290769 [GRCh38]
Chr9:116053049 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.928G>A (p.Asp310Asn) single nucleotide variant not provided [RCV000915255] Chr9:113286824 [GRCh38]
Chr9:116049104 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.363T>C (p.Phe121=) single nucleotide variant not provided [RCV000937553] Chr9:113279102 [GRCh38]
Chr9:116041382 [GRCh37]
Chr9:9q32
likely benign
GRCh37/hg19 9q32(chr9:116034704-116199658)x3 copy number gain not provided [RCV000847316] Chr9:116034704..116199658 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_001244926.2(PRPF4):c.481-2A>G single nucleotide variant not provided [RCV001053610] Chr9:113283130 [GRCh38]
Chr9:116045410 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.977C>T (p.Ala326Val) single nucleotide variant not provided [RCV001055643] Chr9:113288219 [GRCh38]
Chr9:116050499 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32
uncertain significance
NM_001244926.2(PRPF4):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV001241977] Chr9:113283400 [GRCh38]
Chr9:116045680 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.460T>C (p.Ser154Pro) single nucleotide variant not provided [RCV001242599] Chr9:113282713 [GRCh38]
Chr9:116044993 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1183A>G (p.Thr395Ala) single nucleotide variant not provided [RCV001235316] Chr9:113290737 [GRCh38]
Chr9:116053017 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1495A>G (p.Ile499Val) single nucleotide variant not provided [RCV001225342] Chr9:113291589 [GRCh38]
Chr9:116053869 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn) single nucleotide variant Retinitis pigmentosa 70 [RCV002471044]|not provided [RCV001210372]|not specified [RCV004033795] Chr9:113291598 [GRCh38]
Chr9:116053878 [GRCh37]
Chr9:9q32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001244926.2(PRPF4):c.1238A>G (p.Asn413Ser) single nucleotide variant not provided [RCV001246453] Chr9:113290792 [GRCh38]
Chr9:116053072 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.616A>G (p.Arg206Gly) single nucleotide variant not provided [RCV000975977] Chr9:113283444 [GRCh38]
Chr9:116045724 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1035A>G (p.Ser345=) single nucleotide variant not provided [RCV000909337] Chr9:113290478 [GRCh38]
Chr9:116052758 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.238G>C (p.Glu80Gln) single nucleotide variant not provided [RCV001238950] Chr9:113278977 [GRCh38]
Chr9:116041257 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1321G>A (p.Val441Ile) single nucleotide variant not provided [RCV001222610]|not specified [RCV004032447] Chr9:113290965 [GRCh38]
Chr9:116053245 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.725C>G (p.Ser242Cys) single nucleotide variant not provided [RCV001208568] Chr9:113284365 [GRCh38]
Chr9:116046645 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1477A>G (p.Lys493Glu) single nucleotide variant not provided [RCV001221594] Chr9:113291571 [GRCh38]
Chr9:116053851 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.235A>G (p.Ser79Gly) single nucleotide variant not provided [RCV002464867] Chr9:113278974 [GRCh38]
Chr9:116041254 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1369G>C (p.Glu457Gln) single nucleotide variant not provided [RCV001054334] Chr9:113291013 [GRCh38]
Chr9:116053293 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.965C>T (p.Thr322Ile) single nucleotide variant Retinal dystrophy [RCV001073525]|not provided [RCV001046587] Chr9:113288207 [GRCh38]
Chr9:116050487 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.778C>G (p.Pro260Ala) single nucleotide variant not provided [RCV001093098] Chr9:113286260 [GRCh38]
Chr9:116048540 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.8C>T (p.Ser3Phe) single nucleotide variant not provided [RCV001201480] Chr9:113275751 [GRCh38]
Chr9:116038031 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.654+5G>A single nucleotide variant not provided [RCV001042855] Chr9:113283487 [GRCh38]
Chr9:116045767 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.160G>A (p.Gly54Arg) single nucleotide variant not provided [RCV001207266] Chr9:113276680 [GRCh38]
Chr9:116038960 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.474A>C (p.Lys158Asn) single nucleotide variant not provided [RCV001232768] Chr9:113282727 [GRCh38]
Chr9:116045007 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.959G>A (p.Gly320Asp) single nucleotide variant not provided [RCV001232769] Chr9:113288201 [GRCh38]
Chr9:116050481 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1254-11C>G single nucleotide variant Retinal dystrophy [RCV001073391] Chr9:113290887 [GRCh38]
Chr9:116053167 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.827G>C (p.Gly276Ala) single nucleotide variant not provided [RCV001215268] Chr9:113286723 [GRCh38]
Chr9:116049003 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.743C>T (p.Ala248Val) single nucleotide variant Retinal dystrophy [RCV001075187] Chr9:113284383 [GRCh38]
Chr9:116046663 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.583G>A (p.Ala195Thr) single nucleotide variant not provided [RCV001042283] Chr9:113283411 [GRCh38]
Chr9:116045691 [GRCh37]
Chr9:9q32
uncertain significance
NM_004697.4(PRPF4):c.-92A>G single nucleotide variant PRPF4-related disorder [RCV003945975]|not provided [RCV001295811] Chr9:113275652 [GRCh38]
Chr9:116037932 [GRCh37]
Chr9:9q32
likely benign|uncertain significance
NM_001244926.2(PRPF4):c.604C>G (p.Pro202Ala) single nucleotide variant not provided [RCV001299684] Chr9:113283432 [GRCh38]
Chr9:116045712 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1061A>G (p.Gln354Arg) single nucleotide variant not provided [RCV001304078] Chr9:113290504 [GRCh38]
Chr9:116052784 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1124A>T (p.Asp375Val) single nucleotide variant not provided [RCV001317277] Chr9:113290567 [GRCh38]
Chr9:116052847 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.501T>C (p.His167=) single nucleotide variant not provided [RCV001394773] Chr9:113283152 [GRCh38]
Chr9:116045432 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV001368849] Chr9:113275747 [GRCh38]
Chr9:116038027 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.561-15G>A single nucleotide variant not provided [RCV001422336] Chr9:113283374 [GRCh38]
Chr9:116045654 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.561-6T>G single nucleotide variant not provided [RCV001338872] Chr9:113283383 [GRCh38]
Chr9:116045663 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.654+6del deletion not provided [RCV001369351] Chr9:113283488 [GRCh38]
Chr9:116045768 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1189C>T (p.Arg397Cys) single nucleotide variant not provided [RCV001349529] Chr9:113290743 [GRCh38]
Chr9:116053023 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.171A>G (p.Ala57=) single nucleotide variant not provided [RCV001396859] Chr9:113276691 [GRCh38]
Chr9:116038971 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1328C>T (p.Thr443Ile) single nucleotide variant not provided [RCV001360521] Chr9:113290972 [GRCh38]
Chr9:116053252 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.800C>T (p.Thr267Ile) single nucleotide variant not provided [RCV001362849] Chr9:113286282 [GRCh38]
Chr9:116048562 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1316G>A (p.Arg439His) single nucleotide variant not provided [RCV001297538] Chr9:113290960 [GRCh38]
Chr9:116053240 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.296A>G (p.Asn99Ser) single nucleotide variant not provided [RCV001344299] Chr9:113279035 [GRCh38]
Chr9:116041315 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.644A>G (p.Lys215Arg) single nucleotide variant not provided [RCV001304215] Chr9:113283472 [GRCh38]
Chr9:116045752 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1093A>G (p.Met365Val) single nucleotide variant not provided [RCV001367365] Chr9:113290536 [GRCh38]
Chr9:116052816 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1022+3G>A single nucleotide variant not provided [RCV001325853] Chr9:113288267 [GRCh38]
Chr9:116050547 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala) single nucleotide variant not provided [RCV001354561]|not specified [RCV004036712] Chr9:113284379 [GRCh38]
Chr9:116046659 [GRCh37]
Chr9:9q32
likely benign|uncertain significance
NM_001244926.2(PRPF4):c.896C>T (p.Ala299Val) single nucleotide variant not provided [RCV001303621] Chr9:113286792 [GRCh38]
Chr9:116049072 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1253+19A>G single nucleotide variant not provided [RCV001305083] Chr9:113290826 [GRCh38]
Chr9:116053106 [GRCh37]
Chr9:9q32
likely benign|uncertain significance
NM_001244926.2(PRPF4):c.205+14T>C single nucleotide variant not provided [RCV001519727] Chr9:113276739 [GRCh38]
Chr9:116039019 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.756G>A (p.Gly252=) single nucleotide variant not provided [RCV001402685] Chr9:113286238 [GRCh38]
Chr9:116048518 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1449G>A (p.Pro483=) single nucleotide variant not provided [RCV001517210] Chr9:113291543 [GRCh38]
Chr9:116053823 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.417C>G (p.Val139=) single nucleotide variant not provided [RCV001523091] Chr9:113282670 [GRCh38]
Chr9:116044950 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1020C>G (p.Thr340=) single nucleotide variant not provided [RCV001488594] Chr9:113288262 [GRCh38]
Chr9:116050542 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.927C>T (p.Leu309=) single nucleotide variant not provided [RCV001426106] Chr9:113286823 [GRCh38]
Chr9:116049103 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1245C>T (p.Ser415=) single nucleotide variant not provided [RCV001407526] Chr9:113290799 [GRCh38]
Chr9:116053079 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1182C>T (p.Arg394=) single nucleotide variant not provided [RCV001429388] Chr9:113290736 [GRCh38]
Chr9:116053016 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.651C>T (p.Leu217=) single nucleotide variant not provided [RCV001417794] Chr9:113283479 [GRCh38]
Chr9:116045759 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1506T>C (p.Asp502=) single nucleotide variant not provided [RCV001447653] Chr9:113291600 [GRCh38]
Chr9:116053880 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1022+10C>T single nucleotide variant not provided [RCV001432152] Chr9:113288274 [GRCh38]
Chr9:116050554 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.27+17C>T single nucleotide variant not provided [RCV001448214] Chr9:113275787 [GRCh38]
Chr9:116038067 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.897G>A (p.Ala299=) single nucleotide variant not provided [RCV001486437] Chr9:113286793 [GRCh38]
Chr9:116049073 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.392+7T>A single nucleotide variant not provided [RCV001462858] Chr9:113279138 [GRCh38]
Chr9:116041418 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.159C>T (p.Asp53=) single nucleotide variant not provided [RCV001487415] Chr9:113276679 [GRCh38]
Chr9:116038959 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1431G>A (p.Thr477=) single nucleotide variant not provided [RCV001470374] Chr9:113291525 [GRCh38]
Chr9:116053805 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.51C>T (p.Asp17=) single nucleotide variant not provided [RCV001505569] Chr9:113276571 [GRCh38]
Chr9:116038851 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.18C>G (p.Ala6=) single nucleotide variant not provided [RCV001516449] Chr9:113275761 [GRCh38]
Chr9:116038041 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1227C>T (p.Ile409=) single nucleotide variant not provided [RCV001500321] Chr9:113290781 [GRCh38]
Chr9:116053061 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.27+8G>T single nucleotide variant not provided [RCV001455841] Chr9:113275778 [GRCh38]
Chr9:116038058 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.655-10del deletion PRPF4-related disorder [RCV003956149]|not provided [RCV001513435] Chr9:113284278 [GRCh38]
Chr9:116046558 [GRCh37]
Chr9:9q32
benign|likely benign
NM_001244926.2(PRPF4):c.1191T>C (p.Arg397=) single nucleotide variant not provided [RCV001415947] Chr9:113290745 [GRCh38]
Chr9:116053025 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.417C>T (p.Val139=) single nucleotide variant not provided [RCV001511502] Chr9:113282670 [GRCh38]
Chr9:116044950 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1269C>T (p.Thr423=) single nucleotide variant not provided [RCV001404628] Chr9:113290913 [GRCh38]
Chr9:116053193 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.809-8T>C single nucleotide variant not provided [RCV001517935] Chr9:113286697 [GRCh38]
Chr9:116048977 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1332C>T (p.Ile444=) single nucleotide variant not provided [RCV001495030] Chr9:113290976 [GRCh38]
Chr9:116053256 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.465A>G (p.Lys155=) single nucleotide variant not provided [RCV001512058] Chr9:113282718 [GRCh38]
Chr9:116044998 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.588A>C (p.Arg196=) single nucleotide variant not provided [RCV001456442] Chr9:113283416 [GRCh38]
Chr9:116045696 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.120G>A (p.Glu40=) single nucleotide variant not provided [RCV001463852] Chr9:113276640 [GRCh38]
Chr9:116038920 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1022+11C>T single nucleotide variant not provided [RCV001502663] Chr9:113288275 [GRCh38]
Chr9:116050555 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.624C>G (p.Ser208=) single nucleotide variant not provided [RCV001481172] Chr9:113283452 [GRCh38]
Chr9:116045732 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1166G>A (p.Arg389Gln) single nucleotide variant not provided [RCV001908007] Chr9:113290720 [GRCh38]
Chr9:116053000 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1379A>G (p.His460Arg) single nucleotide variant not provided [RCV001988287] Chr9:113291473 [GRCh38]
Chr9:116053753 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.489A>G (p.Gln163=) single nucleotide variant not provided [RCV001927196] Chr9:113283140 [GRCh38]
Chr9:116045420 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1399G>A (p.Gly467Ser) single nucleotide variant not provided [RCV001970610] Chr9:113291493 [GRCh38]
Chr9:116053773 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001244926.2(PRPF4):c.194A>G (p.Asn65Ser) single nucleotide variant not provided [RCV002006871] Chr9:113276714 [GRCh38]
Chr9:116038994 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q32(chr9:115883313-116179965) copy number gain not specified [RCV002052830] Chr9:115883313..116179965 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1019C>G (p.Thr340Ser) single nucleotide variant not provided [RCV002002791] Chr9:113288261 [GRCh38]
Chr9:116050541 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1268C>G (p.Thr423Ser) single nucleotide variant not provided [RCV002021077] Chr9:113290912 [GRCh38]
Chr9:116053192 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
NM_001244926.2(PRPF4):c.1250A>G (p.Asn417Ser) single nucleotide variant not provided [RCV002041511] Chr9:113290804 [GRCh38]
Chr9:116053084 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.560+3A>G single nucleotide variant not provided [RCV001982715] Chr9:113283214 [GRCh38]
Chr9:116045494 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32
likely pathogenic
NC_000009.12:g.113275656A>T single nucleotide variant not provided [RCV001965556] Chr9:113275656 [GRCh38]
Chr9:116037936 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2
likely pathogenic
NM_001244926.2(PRPF4):c.220_225del (p.Ile74_Glu75del) deletion not provided [RCV001889479] Chr9:113278954..113278959 [GRCh38]
Chr9:116041234..116041239 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1430C>T (p.Thr477Met) single nucleotide variant not provided [RCV002023800] Chr9:113291524 [GRCh38]
Chr9:116053804 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.85A>C (p.Ile29Leu) single nucleotide variant not provided [RCV001986431] Chr9:113276605 [GRCh38]
Chr9:116038885 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1003C>T (p.Arg335Cys) single nucleotide variant not provided [RCV001995140] Chr9:113288245 [GRCh38]
Chr9:116050525 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1423A>G (p.Ile475Val) single nucleotide variant not provided [RCV001995157] Chr9:113291517 [GRCh38]
Chr9:116053797 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.638T>C (p.Leu213Pro) single nucleotide variant not provided [RCV001954676] Chr9:113283466 [GRCh38]
Chr9:116045746 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1093A>C (p.Met365Leu) single nucleotide variant not provided [RCV001996111] Chr9:113290536 [GRCh38]
Chr9:116052816 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.25A>G (p.Thr9Ala) single nucleotide variant not provided [RCV001918414] Chr9:113275768 [GRCh38]
Chr9:116038048 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1523C>G (p.Thr508Ser) single nucleotide variant not provided [RCV001962684] Chr9:113291617 [GRCh38]
Chr9:116053897 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.690T>G (p.Asp230Glu) single nucleotide variant not provided [RCV001883646] Chr9:113284330 [GRCh38]
Chr9:116046610 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.116G>A (p.Arg39Lys) single nucleotide variant not provided [RCV002037513] Chr9:113276636 [GRCh38]
Chr9:116038916 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.722A>G (p.Asn241Ser) single nucleotide variant not provided [RCV001981982] Chr9:113284362 [GRCh38]
Chr9:116046642 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.540T>G (p.Ile180Met) single nucleotide variant not provided [RCV001989590] Chr9:113283191 [GRCh38]
Chr9:116045471 [GRCh37]
Chr9:9q32
uncertain significance
NC_000009.11:g.(?_116041205)_(116155839_?)dup duplication not provided [RCV001920545] Chr9:116041205..116155839 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.485A>G (p.Gln162Arg) single nucleotide variant not provided [RCV001899500] Chr9:113283136 [GRCh38]
Chr9:116045416 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1303C>A (p.Leu435Ile) single nucleotide variant not provided [RCV001898604] Chr9:113290947 [GRCh38]
Chr9:116053227 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1247C>G (p.Pro416Arg) single nucleotide variant not provided [RCV002030503] Chr9:113290801 [GRCh38]
Chr9:116053081 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1333C>A (p.Pro445Thr) single nucleotide variant not provided [RCV002050432] Chr9:113290977 [GRCh38]
Chr9:116053257 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.343G>T (p.Gly115Trp) single nucleotide variant not provided [RCV002050876] Chr9:113279082 [GRCh38]
Chr9:116041362 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1246C>T (p.Pro416Ser) single nucleotide variant not provided [RCV001899612] Chr9:113290800 [GRCh38]
Chr9:116053080 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1445C>T (p.Ser482Phe) single nucleotide variant not provided [RCV001922843] Chr9:113291539 [GRCh38]
Chr9:116053819 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1372C>A (p.Pro458Thr) single nucleotide variant not provided [RCV001991653] Chr9:113291016 [GRCh38]
Chr9:116053296 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.808+4A>C single nucleotide variant not provided [RCV001926044] Chr9:113286294 [GRCh38]
Chr9:116048574 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1387T>A (p.Phe463Ile) single nucleotide variant not provided [RCV001955375] Chr9:113291481 [GRCh38]
Chr9:116053761 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.119A>G (p.Glu40Gly) single nucleotide variant not provided [RCV001932215]|not specified [RCV004656688] Chr9:113276639 [GRCh38]
Chr9:116038919 [GRCh37]
Chr9:9q32
uncertain significance
NC_000009.12:g.113275657C>T single nucleotide variant not provided [RCV001973686] Chr9:113275657 [GRCh38]
Chr9:116037937 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.28-9A>G single nucleotide variant not provided [RCV002049516] Chr9:113276539 [GRCh38]
Chr9:116038819 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.31A>T (p.Thr11Ser) single nucleotide variant not provided [RCV001981558] Chr9:113276551 [GRCh38]
Chr9:116038831 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.781G>A (p.Asp261Asn) single nucleotide variant not provided [RCV002035952] Chr9:113286263 [GRCh38]
Chr9:116048543 [GRCh37]
Chr9:9q32
uncertain significance
NC_000009.12:g.113275654T>C single nucleotide variant not provided [RCV001998785] Chr9:113275654 [GRCh38]
Chr9:116037934 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1148G>C (p.Gly383Ala) single nucleotide variant not provided [RCV002027907] Chr9:113290702 [GRCh38]
Chr9:116052982 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1270G>A (p.Gly424Ser) single nucleotide variant not provided [RCV001901164] Chr9:113290914 [GRCh38]
Chr9:116053194 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.392+6C>T single nucleotide variant not provided [RCV002027770] Chr9:113279137 [GRCh38]
Chr9:116041417 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.78A>G (p.Lys26=) single nucleotide variant not provided [RCV002165057] Chr9:113276598 [GRCh38]
Chr9:116038878 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.561-4G>A single nucleotide variant not provided [RCV002207763] Chr9:113283385 [GRCh38]
Chr9:116045665 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.411A>G (p.Ser137=) single nucleotide variant not provided [RCV002189975] Chr9:113282664 [GRCh38]
Chr9:116044944 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.28-19C>T single nucleotide variant not provided [RCV002189993] Chr9:113276529 [GRCh38]
Chr9:116038809 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1350A>G (p.Leu450=) single nucleotide variant not provided [RCV002112338] Chr9:113290994 [GRCh38]
Chr9:116053274 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1145+17G>A single nucleotide variant not provided [RCV002092410] Chr9:113290605 [GRCh38]
Chr9:116052885 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.918T>C (p.Leu306=) single nucleotide variant not provided [RCV002210661] Chr9:113286814 [GRCh38]
Chr9:116049094 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1377C>T (p.Ile459=) single nucleotide variant not provided [RCV002105891] Chr9:113291471 [GRCh38]
Chr9:116053751 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1022+18T>C single nucleotide variant not provided [RCV002166948] Chr9:113288282 [GRCh38]
Chr9:116050562 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.429C>G (p.Ala143=) single nucleotide variant not provided [RCV002090625] Chr9:113282682 [GRCh38]
Chr9:116044962 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.933-12G>A single nucleotide variant not provided [RCV002125294] Chr9:113288163 [GRCh38]
Chr9:116050443 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1254-20A>G single nucleotide variant not provided [RCV002149700] Chr9:113290878 [GRCh38]
Chr9:116053158 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.654+15G>A single nucleotide variant not provided [RCV002127365] Chr9:113283497 [GRCh38]
Chr9:116045777 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.750-4A>T single nucleotide variant not provided [RCV002152426] Chr9:113286228 [GRCh38]
Chr9:116048508 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1254-14C>T single nucleotide variant not provided [RCV002149465] Chr9:113290884 [GRCh38]
Chr9:116053164 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.276G>A (p.Arg92=) single nucleotide variant not provided [RCV002196504] Chr9:113279015 [GRCh38]
Chr9:116041295 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1373-6C>G single nucleotide variant not provided [RCV002153851] Chr9:113291461 [GRCh38]
Chr9:116053741 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.932+7A>G single nucleotide variant not provided [RCV002216357] Chr9:113286835 [GRCh38]
Chr9:116049115 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1344G>A (p.Gln448=) single nucleotide variant not provided [RCV002173438] Chr9:113290988 [GRCh38]
Chr9:116053268 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.393-6T>A single nucleotide variant not provided [RCV002126529] Chr9:113282640 [GRCh38]
Chr9:116044920 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1022+17T>C single nucleotide variant not provided [RCV002172566] Chr9:113288281 [GRCh38]
Chr9:116050561 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1253+12_1253+15del microsatellite not provided [RCV002166891] Chr9:113290817..113290820 [GRCh38]
Chr9:116053097..116053100 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.996T>A (p.Pro332=) single nucleotide variant not provided [RCV002085424] Chr9:113288238 [GRCh38]
Chr9:116050518 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.393-10T>A single nucleotide variant not provided [RCV002135378] Chr9:113282636 [GRCh38]
Chr9:116044916 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1145+15A>G single nucleotide variant not provided [RCV002179124] Chr9:113290603 [GRCh38]
Chr9:116052883 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.561-5C>T single nucleotide variant not provided [RCV002177153] Chr9:113283384 [GRCh38]
Chr9:116045664 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1373-12C>T single nucleotide variant not provided [RCV002100212] Chr9:113291455 [GRCh38]
Chr9:116053735 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1145+12C>T single nucleotide variant not provided [RCV002158416] Chr9:113290600 [GRCh38]
Chr9:116052880 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.392+16A>G single nucleotide variant not provided [RCV002204279] Chr9:113279147 [GRCh38]
Chr9:116041427 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.749+16C>A single nucleotide variant not provided [RCV002122465] Chr9:113284405 [GRCh38]
Chr9:116046685 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.1373-18C>A single nucleotide variant not provided [RCV002142197] Chr9:113291449 [GRCh38]
Chr9:116053729 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.28-22A>T single nucleotide variant not provided [RCV002099674] Chr9:113276526 [GRCh38]
Chr9:116038806 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.534A>G (p.Leu178=) single nucleotide variant not provided [RCV002117656] Chr9:113283185 [GRCh38]
Chr9:116045465 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.984A>G (p.Val328=) single nucleotide variant not provided [RCV002083409] Chr9:113288226 [GRCh38]
Chr9:116050506 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.280C>A (p.Arg94=) single nucleotide variant not provided [RCV002161545] Chr9:113279019 [GRCh38]
Chr9:116041299 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.808+8_808+14del deletion not provided [RCV002217160] Chr9:113286297..113286303 [GRCh38]
Chr9:116048577..116048583 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.393-12T>C single nucleotide variant not provided [RCV002204294] Chr9:113282634 [GRCh38]
Chr9:116044914 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.795T>C (p.Leu265=) single nucleotide variant not provided [RCV002164263] Chr9:113286277 [GRCh38]
Chr9:116048557 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.111G>A (p.Lys37=) single nucleotide variant not provided [RCV002144059] Chr9:113276631 [GRCh38]
Chr9:116038911 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.93T>C (p.Tyr31=) single nucleotide variant not provided [RCV002218787] Chr9:113276613 [GRCh38]
Chr9:116038893 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.654+18A>G single nucleotide variant not provided [RCV002103652] Chr9:113283500 [GRCh38]
Chr9:116045780 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.481-18T>C single nucleotide variant not provided [RCV002118892] Chr9:113283114 [GRCh38]
Chr9:116045394 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.87C>T (p.Ile29=) single nucleotide variant PRPF4-related disorder [RCV003933590]|not provided [RCV002138146] Chr9:113276607 [GRCh38]
Chr9:116038887 [GRCh37]
Chr9:9q32
benign|likely benign
NM_001244926.2(PRPF4):c.639G>A (p.Leu213=) single nucleotide variant not provided [RCV002184104] Chr9:113283467 [GRCh38]
Chr9:116045747 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.480+19T>C single nucleotide variant not provided [RCV002139876] Chr9:113282752 [GRCh38]
Chr9:116045032 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.205+20C>T single nucleotide variant not provided [RCV002082539] Chr9:113276745 [GRCh38]
Chr9:116039025 [GRCh37]
Chr9:9q32
likely benign
NC_000009.11:g.(?_116037910)_(116038070_?)dup duplication not provided [RCV003113569] Chr9:116037910..116038070 [GRCh37]
Chr9:9q32
uncertain significance
NC_000009.11:g.(?_116037910)_(116993432_?)dup duplication not provided [RCV003123074] Chr9:116037910..116993432 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
NM_001244926.2(PRPF4):c.842A>G (p.His281Arg) single nucleotide variant not provided [RCV002903219] Chr9:113286738 [GRCh38]
Chr9:116049018 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.238G>A (p.Glu80Lys) single nucleotide variant not provided [RCV002726717] Chr9:113278977 [GRCh38]
Chr9:116041257 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.750-11G>A single nucleotide variant Retinitis pigmentosa 70 [RCV002471742] Chr9:113286221 [GRCh38]
Chr9:116048501 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1400G>C (p.Gly467Ala) single nucleotide variant not provided [RCV002299538] Chr9:113291494 [GRCh38]
Chr9:116053774 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.435A>G (p.Lys145=) single nucleotide variant not provided [RCV002858575] Chr9:113282688 [GRCh38]
Chr9:116044968 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1527C>T (p.Cys509=) single nucleotide variant not provided [RCV002613378] Chr9:113291621 [GRCh38]
Chr9:116053901 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1041C>T (p.Arg347=) single nucleotide variant not provided [RCV002816114] Chr9:113290484 [GRCh38]
Chr9:116052764 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.70G>T (p.Val24Leu) single nucleotide variant not specified [RCV004102806] Chr9:113276590 [GRCh38]
Chr9:116038870 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1414A>G (p.Thr472Ala) single nucleotide variant not provided [RCV003016909] Chr9:113291508 [GRCh38]
Chr9:116053788 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.840C>T (p.Phe280=) single nucleotide variant not provided [RCV002726238] Chr9:113286736 [GRCh38]
Chr9:116049016 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1373-20C>T single nucleotide variant not provided [RCV002839360] Chr9:113291447 [GRCh38]
Chr9:116053727 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.618G>C (p.Arg206Ser) single nucleotide variant not provided [RCV002947952] Chr9:113283446 [GRCh38]
Chr9:116045726 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1373-7C>T single nucleotide variant not provided [RCV002882267] Chr9:113291460 [GRCh38]
Chr9:116053740 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.552G>T (p.Ser184=) single nucleotide variant not provided [RCV002907839] Chr9:113283203 [GRCh38]
Chr9:116045483 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.28-11T>G single nucleotide variant not provided [RCV003039604] Chr9:113276537 [GRCh38]
Chr9:116038817 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.28-21T>A single nucleotide variant not provided [RCV003039583] Chr9:113276527 [GRCh38]
Chr9:116038807 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.808G>A (p.Gly270Arg) single nucleotide variant not provided [RCV003055402] Chr9:113286290 [GRCh38]
Chr9:116048570 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.434A>G (p.Lys145Arg) single nucleotide variant not provided [RCV002825423] Chr9:113282687 [GRCh38]
Chr9:116044967 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.809-6C>T single nucleotide variant not provided [RCV002571824] Chr9:113286699 [GRCh38]
Chr9:116048979 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.208G>A (p.Glu70Lys) single nucleotide variant not specified [RCV004143733] Chr9:113278947 [GRCh38]
Chr9:116041227 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1249A>G (p.Asn417Asp) single nucleotide variant not provided [RCV003053125] Chr9:113290803 [GRCh38]
Chr9:116053083 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.241C>A (p.Arg81=) single nucleotide variant not provided [RCV002824643] Chr9:113278980 [GRCh38]
Chr9:116041260 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1146-12T>C single nucleotide variant not provided [RCV002696257] Chr9:113290688 [GRCh38]
Chr9:116052968 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1459C>T (p.Leu487=) single nucleotide variant not provided [RCV002796313] Chr9:113291553 [GRCh38]
Chr9:116053833 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.933-4C>G single nucleotide variant not provided [RCV003054225] Chr9:113288171 [GRCh38]
Chr9:116050451 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1320C>T (p.Cys440=) single nucleotide variant not provided [RCV002781005] Chr9:113290964 [GRCh38]
Chr9:116053244 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.393G>A (p.Arg131=) single nucleotide variant not provided [RCV002910178] Chr9:113282646 [GRCh38]
Chr9:116044926 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.697A>G (p.Ile233Val) single nucleotide variant not provided [RCV002953265] Chr9:113284337 [GRCh38]
Chr9:116046617 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1022+16A>G single nucleotide variant not provided [RCV003020913] Chr9:113288280 [GRCh38]
Chr9:116050560 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.561-12T>G single nucleotide variant not provided [RCV002848322] Chr9:113283377 [GRCh38]
Chr9:116045657 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.205+17G>C single nucleotide variant not provided [RCV002701270] Chr9:113276742 [GRCh38]
Chr9:116039022 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.561-7G>T single nucleotide variant not provided [RCV003026082] Chr9:113283382 [GRCh38]
Chr9:116045662 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1030C>T (p.Arg344Cys) single nucleotide variant not provided [RCV002958523] Chr9:113290473 [GRCh38]
Chr9:116052753 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1372+14C>G single nucleotide variant not provided [RCV002643192] Chr9:113291030 [GRCh38]
Chr9:116053310 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.150G>A (p.Leu50=) single nucleotide variant not provided [RCV002645683] Chr9:113276670 [GRCh38]
Chr9:116038950 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.627G>C (p.Gln209His) single nucleotide variant not provided [RCV002828546] Chr9:113283455 [GRCh38]
Chr9:116045735 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.65C>T (p.Pro22Leu) single nucleotide variant not provided [RCV002643809] Chr9:113276585 [GRCh38]
Chr9:116038865 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV002573088] Chr9:113278976 [GRCh38]
Chr9:116041256 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1372C>T (p.Pro458Ser) single nucleotide variant not provided [RCV002593768] Chr9:113291016 [GRCh38]
Chr9:116053296 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.904G>A (p.Gly302Ser) single nucleotide variant not provided [RCV002626226] Chr9:113286800 [GRCh38]
Chr9:116049080 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.219A>G (p.Glu73=) single nucleotide variant not provided [RCV002825781] Chr9:113278958 [GRCh38]
Chr9:116041238 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.481-20G>T single nucleotide variant not provided [RCV003042850] Chr9:113283112 [GRCh38]
Chr9:116045392 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1083A>G (p.Glu361=) single nucleotide variant not provided [RCV002876480] Chr9:113290526 [GRCh38]
Chr9:116052806 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.-83C>G single nucleotide variant not provided [RCV002894801] Chr9:113275661 [GRCh38]
Chr9:116037941 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.816C>T (p.Asn272=) single nucleotide variant not provided [RCV003058014] Chr9:113286712 [GRCh38]
Chr9:116048992 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.418G>A (p.Gly140Ser) single nucleotide variant not provided [RCV002918775] Chr9:113282671 [GRCh38]
Chr9:116044951 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.685G>A (p.Asp229Asn) single nucleotide variant not provided [RCV003007634] Chr9:113284325 [GRCh38]
Chr9:116046605 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1253+7T>C single nucleotide variant not provided [RCV002593778] Chr9:113290814 [GRCh38]
Chr9:116053094 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.797A>G (p.His266Arg) single nucleotide variant not specified [RCV004145061] Chr9:113286279 [GRCh38]
Chr9:116048559 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.933-8C>T single nucleotide variant not provided [RCV003024592] Chr9:113288167 [GRCh38]
Chr9:116050447 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.996T>C (p.Pro332=) single nucleotide variant not provided [RCV003023678] Chr9:113288238 [GRCh38]
Chr9:116050518 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.196A>G (p.Ile66Val) single nucleotide variant not provided [RCV003063793] Chr9:113276716 [GRCh38]
Chr9:116038996 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV002580991] Chr9:113290957 [GRCh38]
Chr9:116053237 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.611CAA[1] (p.Thr205del) microsatellite not provided [RCV003049452] Chr9:113283438..113283440 [GRCh38]
Chr9:116045718..116045720 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.821A>G (p.Asn274Ser) single nucleotide variant not specified [RCV004236292] Chr9:113286717 [GRCh38]
Chr9:116048997 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.749+18A>G single nucleotide variant not provided [RCV002647093] Chr9:113284407 [GRCh38]
Chr9:116046687 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1146-20T>C single nucleotide variant not provided [RCV003027773] Chr9:113290680 [GRCh38]
Chr9:116052960 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.456G>A (p.Glu152=) single nucleotide variant not provided [RCV003044941] Chr9:113282709 [GRCh38]
Chr9:116044989 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1045T>C (p.Trp349Arg) single nucleotide variant not provided [RCV003027508] Chr9:113290488 [GRCh38]
Chr9:116052768 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.809-17C>T single nucleotide variant not provided [RCV003028483] Chr9:113286688 [GRCh38]
Chr9:116048968 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.655-20G>A single nucleotide variant not provided [RCV002630593] Chr9:113284275 [GRCh38]
Chr9:116046555 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1373-17C>G single nucleotide variant not provided [RCV002746087] Chr9:113291450 [GRCh38]
Chr9:116053730 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.28-4G>C single nucleotide variant not provided [RCV002877560] Chr9:113276544 [GRCh38]
Chr9:116038824 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.205+4A>G single nucleotide variant not provided [RCV002857667] Chr9:113276729 [GRCh38]
Chr9:116039009 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.206-3T>C single nucleotide variant not provided [RCV002577045] Chr9:113278942 [GRCh38]
Chr9:116041222 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.656C>T (p.Ser219Phe) single nucleotide variant not provided [RCV002810140] Chr9:113284296 [GRCh38]
Chr9:116046576 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1102T>C (p.Tyr368His) single nucleotide variant not provided [RCV003574996]|not specified [RCV004149434] Chr9:113290545 [GRCh38]
Chr9:116052825 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.392+20A>G single nucleotide variant not provided [RCV003030769] Chr9:113279151 [GRCh38]
Chr9:116041431 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.72G>A (p.Val24=) single nucleotide variant not provided [RCV002770205] Chr9:113276592 [GRCh38]
Chr9:116038872 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1448C>T (p.Pro483Leu) single nucleotide variant not provided [RCV003009992] Chr9:113291542 [GRCh38]
Chr9:116053822 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1261A>G (p.Ile421Val) single nucleotide variant not provided [RCV002746429] Chr9:113290905 [GRCh38]
Chr9:116053185 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.393-5A>G single nucleotide variant not provided [RCV003047647] Chr9:113282641 [GRCh38]
Chr9:116044921 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.549T>C (p.Tyr183=) single nucleotide variant not provided [RCV002814472] Chr9:113283200 [GRCh38]
Chr9:116045480 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.793C>T (p.Leu265Phe) single nucleotide variant not provided [RCV002603780] Chr9:113286275 [GRCh38]
Chr9:116048555 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.786C>G (p.Cys262Trp) single nucleotide variant not provided [RCV003052312] Chr9:113286268 [GRCh38]
Chr9:116048548 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.605C>T (p.Pro202Leu) single nucleotide variant not provided [RCV002815103] Chr9:113283433 [GRCh38]
Chr9:116045713 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.27+12G>A single nucleotide variant not provided [RCV002604098] Chr9:113275782 [GRCh38]
Chr9:116038062 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1312C>T (p.Arg438Trp) single nucleotide variant not provided [RCV002721916] Chr9:113290956 [GRCh38]
Chr9:116053236 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV003032009] Chr9:113275760 [GRCh38]
Chr9:116038040 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1267A>G (p.Thr423Ala) single nucleotide variant not provided [RCV002676981] Chr9:113290911 [GRCh38]
Chr9:116053191 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1389C>G (p.Phe463Leu) single nucleotide variant not provided [RCV003073443] Chr9:113291483 [GRCh38]
Chr9:116053763 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.546T>C (p.Asn182=) single nucleotide variant not provided [RCV002611098] Chr9:113283197 [GRCh38]
Chr9:116045477 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1145+11T>A single nucleotide variant not provided [RCV002604775] Chr9:113290599 [GRCh38]
Chr9:116052879 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1498T>G (p.Ser500Ala) single nucleotide variant not specified [RCV004257942] Chr9:113291592 [GRCh38]
Chr9:116053872 [GRCh37]
Chr9:9q32
uncertain significance
NM_004697.4(PRPF4):c.-110A>G single nucleotide variant not provided [RCV003660331] Chr9:113275634 [GRCh38]
Chr9:116037914 [GRCh37]
Chr9:9q32
uncertain significance
NM_004697.4(PRPF4):c.-98C>T single nucleotide variant not provided [RCV003662619] Chr9:113275646 [GRCh38]
Chr9:116037926 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.561-3C>T single nucleotide variant not provided [RCV003826575] Chr9:113283386 [GRCh38]
Chr9:116045666 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.191T>C (p.Ile64Thr) single nucleotide variant not provided [RCV003828674] Chr9:113276711 [GRCh38]
Chr9:116038991 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.941C>G (p.Pro314Arg) single nucleotide variant not provided [RCV003829363] Chr9:113288183 [GRCh38]
Chr9:116050463 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.560+18T>C single nucleotide variant not provided [RCV003572655] Chr9:113283229 [GRCh38]
Chr9:116045509 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1065G>A (p.Glu355=) single nucleotide variant not provided [RCV003689548] Chr9:113290508 [GRCh38]
Chr9:116052788 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1253+20T>C single nucleotide variant not provided [RCV003692781] Chr9:113290827 [GRCh38]
Chr9:116053107 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.560+10G>A single nucleotide variant not provided [RCV003571934] Chr9:113283221 [GRCh38]
Chr9:116045501 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1372+11C>T single nucleotide variant not provided [RCV003715035] Chr9:113291027 [GRCh38]
Chr9:116053307 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.591C>G (p.Leu197=) single nucleotide variant not provided [RCV003832501] Chr9:113283419 [GRCh38]
Chr9:116045699 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.143G>C (p.Gly48Ala) single nucleotide variant not provided [RCV003851316] Chr9:113276663 [GRCh38]
Chr9:116038943 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.933-18T>C single nucleotide variant not provided [RCV003670484] Chr9:113288157 [GRCh38]
Chr9:116050437 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.108G>A (p.Glu36=) single nucleotide variant not provided [RCV003702664] Chr9:113276628 [GRCh38]
Chr9:116038908 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.655-10dup duplication not provided [RCV003856839] Chr9:113284277..113284278 [GRCh38]
Chr9:116046557..116046558 [GRCh37]
Chr9:9q32
benign
NM_001244926.2(PRPF4):c.561-4G>T single nucleotide variant not provided [RCV003668445] Chr9:113283385 [GRCh38]
Chr9:116045665 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.542C>G (p.Ala181Gly) single nucleotide variant not provided [RCV003817093] Chr9:113283193 [GRCh38]
Chr9:116045473 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.393-5A>T single nucleotide variant not provided [RCV003837758] Chr9:113282641 [GRCh38]
Chr9:116044921 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1012G>T (p.Gly338Cys) single nucleotide variant not provided [RCV003850096] Chr9:113288254 [GRCh38]
Chr9:116050534 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.490A>G (p.Thr164Ala) single nucleotide variant not provided [RCV003845605] Chr9:113283141 [GRCh38]
Chr9:116045421 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.330C>T (p.Cys110=) single nucleotide variant not provided [RCV003841772] Chr9:113279069 [GRCh38]
Chr9:116041349 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.980G>A (p.Arg327Gln) single nucleotide variant not provided [RCV003730894] Chr9:113288222 [GRCh38]
Chr9:116050502 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1145+15A>C single nucleotide variant not provided [RCV003680527] Chr9:113290603 [GRCh38]
Chr9:116052883 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.1240T>A (p.Phe414Ile) single nucleotide variant not provided [RCV003679537] Chr9:113290794 [GRCh38]
Chr9:116053074 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.148T>C (p.Leu50=) single nucleotide variant not provided [RCV003719721] Chr9:113276668 [GRCh38]
Chr9:116038948 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.-72C>T single nucleotide variant PRPF4-related disorder [RCV003939374] Chr9:113275672 [GRCh38]
Chr9:116037952 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.409T>C (p.Ser137Pro) single nucleotide variant not provided [RCV003680194] Chr9:113282662 [GRCh38]
Chr9:116044942 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.896C>A (p.Ala299Glu) single nucleotide variant not provided [RCV003685777] Chr9:113286792 [GRCh38]
Chr9:116049072 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.480+19T>G single nucleotide variant not provided [RCV003703877] Chr9:113282752 [GRCh38]
Chr9:116045032 [GRCh37]
Chr9:9q32
likely benign
NM_001244926.2(PRPF4):c.469T>G (p.Ser157Ala) single nucleotide variant not provided [RCV003735769] Chr9:113282722 [GRCh38]
Chr9:116045002 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.654+6A>G single nucleotide variant not provided [RCV003712471] Chr9:113283488 [GRCh38]
Chr9:116045768 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.775G>C (p.Val259Leu) single nucleotide variant not provided [RCV003675151] Chr9:113286257 [GRCh38]
Chr9:116048537 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1371G>A (p.Glu457=) single nucleotide variant not provided [RCV003730045] Chr9:113291015 [GRCh38]
Chr9:116053295 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1365G>T (p.Lys455Asn) single nucleotide variant not provided [RCV003680823] Chr9:113291009 [GRCh38]
Chr9:116053289 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.443A>G (p.Lys148Arg) single nucleotide variant not specified [RCV004507520] Chr9:113282696 [GRCh38]
Chr9:116044976 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.1471G>A (p.Glu491Lys) single nucleotide variant not specified [RCV004507518] Chr9:113291565 [GRCh38]
Chr9:116053845 [GRCh37]
Chr9:9q32
uncertain significance
NM_001244926.2(PRPF4):c.161G>A (p.Gly54Glu) single nucleotide variant not specified [RCV004507519] Chr9:113276681 [GRCh38]
Chr9:116038961 [GRCh37]
Chr9:9q32
uncertain significance
NC_000009.11:g.(?_116044906)_(116053940_?)dup duplication not provided [RCV004582095] Chr9:116044906..116053940 [GRCh37]
Chr9:9q32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1300
Count of miRNA genes:429
Interacting mature miRNAs:465
Transcripts:ENST00000374198, ENST00000374199, ENST00000488937
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407272134GWAS921110_Hbody height QTL GWAS921110 (human)3e-39body height (VT:0001253)body height (CMO:0000106)9113286594113286595Human
407006817GWAS655793_Hneutrophil count QTL GWAS655793 (human)6e-18neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)9113285192113285193Human
407060585GWAS709561_Hwhite matter growth measurement QTL GWAS709561 (human)0.000006white matter growth measurement9113279983113279984Human

Markers in Region
D9S1962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,054,668 - 116,054,835UniSTSGRCh37
GRCh379116,054,812 - 116,054,941UniSTSGRCh37
Build 369115,094,489 - 115,094,656RGDNCBI36
Celera986,702,283 - 86,702,450RGD
Celera986,702,427 - 86,702,556UniSTS
Cytogenetic Map9q31-q33UniSTS
HuRef985,662,054 - 85,662,221UniSTS
HuRef985,662,198 - 85,662,327UniSTS
TNG Radiation Hybrid Map943265.0UniSTS
Stanford-G3 RH Map93878.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
GeneMap99-G3 RH Map93776.0UniSTS
D1S3697  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q12UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map3p21.31-p21.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map1p36.13UniSTS
D9S1962  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q31-q33UniSTS
Whitehead-YAC Contig Map9 UniSTS
GeneMap99-G3 RH Map93761.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW052006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY572489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA420073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA815191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374198   ⟹   ENSP00000363313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,275,658 - 113,292,905 (+)Ensembl
Ensembl Acc Id: ENST00000374199   ⟹   ENSP00000363315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,275,642 - 113,294,009 (+)Ensembl
Ensembl Acc Id: ENST00000488937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,279,096 - 113,283,176 (+)Ensembl
RefSeq Acc Id: NM_001244926   ⟹   NP_001231855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
GRCh379116,037,914 - 116,056,079 (+)NCBI
HuRef985,645,378 - 85,662,571 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322266   ⟹   NP_001309195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322267   ⟹   NP_001309196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004697   ⟹   NP_004688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
GRCh379116,037,914 - 116,056,079 (+)NCBI
Build 369115,077,795 - 115,094,877 (+)NCBI Archive
HuRef985,645,378 - 85,662,571 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136265
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136266
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,275,658 - 113,292,905 (+)NCBI
CHM1_19116,184,652 - 116,201,881 (+)NCBI
T2T-CHM13v2.09125,474,498 - 125,491,706 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004688   ⟸   NM_004697
- Peptide Label: isoform 1
- UniProtKB: Q96DG2 (UniProtKB/Swiss-Prot),   Q5T1M8 (UniProtKB/Swiss-Prot),   O43864 (UniProtKB/Swiss-Prot),   O43445 (UniProtKB/Swiss-Prot),   Q96IK4 (UniProtKB/Swiss-Prot),   O43172 (UniProtKB/Swiss-Prot),   B2R7V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231855   ⟸   NM_001244926
- Peptide Label: isoform 2
- UniProtKB: Q5T1M7 (UniProtKB/TrEMBL),   B2R7V4 (UniProtKB/TrEMBL),   Q6IAP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309196   ⟸   NM_001322267
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309195   ⟸   NM_001322266
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000363313   ⟸   ENST00000374198
Ensembl Acc Id: ENSP00000363315   ⟸   ENST00000374199
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43172-F1-model_v2 AlphaFold O43172 1-522 view protein structure

Promoters
RGD ID:7215911
Promoter ID:EPDNEW_H13702
Type:initiation region
Name:PRPF4_1
Description:pre-mRNA processing factor 4
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
GRCh389113,275,658 - 113,275,718EPDNEW
RGD ID:6807982
Promoter ID:HG_KWN:64584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374199,   OTTHUMT00000053708
Position:
Human AssemblyChrPosition (strand)Source
Build 369115,076,716 - 115,077,852 (+)MPROMDB
RGD ID:6851476
Promoter ID:EP73539
Type:initiation region
Name:HS_PRPF4
Description:PRP4 pre-mRNA processing factor 4 homolog (yeast).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 369115,077,770 - 115,077,830EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17349 AgrOrtholog
COSMIC PRPF4 COSMIC
Ensembl Genes ENSG00000136875 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374198 ENTREZGENE
  ENST00000374198.5 UniProtKB/Swiss-Prot
  ENST00000374199 ENTREZGENE
  ENST00000374199.9 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.280.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136875 GTEx
HGNC ID HGNC:17349 ENTREZGENE
Human Proteome Map PRPF4 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRP4-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRP4-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9128 UniProtKB/Swiss-Prot
NCBI Gene 9128 ENTREZGENE
OMIM 607795 OMIM
PANTHER U4/U6 SMALL NUCLEAR RIBONUCLEOPROTEIN PRP4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 REPEAT PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRP4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38448 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SFM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF158230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R7V4 ENTREZGENE, UniProtKB/TrEMBL
  O43172 ENTREZGENE
  O43445 ENTREZGENE
  O43864 ENTREZGENE
  PRP4_HUMAN UniProtKB/Swiss-Prot
  Q5T1M7 ENTREZGENE, UniProtKB/TrEMBL
  Q5T1M8 ENTREZGENE
  Q6IAP9 ENTREZGENE, UniProtKB/TrEMBL
  Q96DG2 ENTREZGENE
  Q96IK4 ENTREZGENE
UniProt Secondary O43445 UniProtKB/Swiss-Prot
  O43864 UniProtKB/Swiss-Prot
  Q5T1M8 UniProtKB/Swiss-Prot
  Q96DG2 UniProtKB/Swiss-Prot
  Q96IK4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-25 PRPF4  pre-mRNA splicing tri-snRNP complex factor PRPF4  PRPF4  pre-mRNA processing factor 4  Symbol and/or name change 19259463 PROVISIONAL
2013-10-22 PRPF4  pre-mRNA processing factor 4    PRP4 pre-mRNA processing factor 4 homolog (yeast)  Symbol and/or name change 5135510 APPROVED