Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PRPF4 | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PRPF4 | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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# | 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. |
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 |
PRPF4 (Homo sapiens - human) |
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Prpf4 (Mus musculus - house mouse) |
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Prpf4 (Rattus norvegicus - Norway rat) |
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Prpf4 (Chinchilla lanigera - long-tailed chinchilla) |
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PRPF4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PRPF4 (Canis lupus familiaris - dog) |
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Prpf4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PRPF4 (Sus scrofa - pig) |
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PRPF4 (Chlorocebus sabaeus - green monkey) |
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Prpf4 (Heterocephalus glaber - naked mole-rat) |
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Variants in PRPF4
291 total 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 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D9S1962 |
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D1S3697 |
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D9S1962 |
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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 |
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: |
|
Ensembl Acc Id: | ENST00000374199 ⟹ ENSP00000363315 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000488937 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001244926 ⟹ NP_001231855 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322266 ⟹ NP_001309195 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322267 ⟹ NP_001309196 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_004697 ⟹ NP_004688 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136265 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_136266 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001231855 | (Get FASTA) | NCBI Sequence Viewer |
NP_001309195 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001309196 | (Get FASTA) | NCBI Sequence Viewer | |
NP_004688 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB87640 | (Get FASTA) | NCBI Sequence Viewer |
AAC02261 | (Get FASTA) | NCBI Sequence Viewer | |
AAC51925 | (Get FASTA) | NCBI Sequence Viewer | |
AAH01588 | (Get FASTA) | NCBI Sequence Viewer | |
AAH07424 | (Get FASTA) | NCBI Sequence Viewer | |
AAS78572 | (Get FASTA) | NCBI Sequence Viewer | |
BAD93034 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35951 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33386 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87362 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87363 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000363313 | ||
ENSP00000363313.4 | |||
ENSP00000363315 | |||
ENSP00000363315.4 | |||
GenBank Protein | O43172 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O43172-F1-model_v2 | AlphaFold | O43172 | 1-522 | view protein structure |
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: |
|
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: |
|
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: |
|
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 |
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 |