Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TPR | Human | Thyroid Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23811263 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TPR | Human | Thyroid Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23811263 | |
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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 |
PMID:1437155 | PMID:1532241 | PMID:1549355 | PMID:1611909 | PMID:3277171 | PMID:3387099 | PMID:3821733 | PMID:7798308 | PMID:7851906 | PMID:9024684 | PMID:9828100 | PMID:9864356 |
PMID:10601273 | PMID:10708513 | PMID:11248057 | PMID:11514627 | PMID:11839768 | PMID:11896612 | PMID:11952838 | PMID:12228227 | PMID:12477932 | PMID:12513910 | PMID:12594221 | PMID:12802065 |
PMID:14702039 | PMID:15229283 | PMID:15302935 | PMID:15635413 | PMID:15654337 | PMID:16051665 | PMID:16964243 | PMID:17081983 | PMID:17098863 | PMID:17643375 | PMID:17897941 | PMID:18029348 |
PMID:18663750 | PMID:18794356 | PMID:18981471 | PMID:19273613 | PMID:19394292 | PMID:19460752 | PMID:19738201 | PMID:20133940 | PMID:20237496 | PMID:20360068 | PMID:20407419 | PMID:20467437 |
PMID:20479123 | PMID:20936779 | PMID:21282530 | PMID:21613532 | PMID:21628590 | PMID:21811608 | PMID:21873635 | PMID:22145905 | PMID:22253824 | PMID:22401879 | PMID:22412018 | PMID:22586326 |
PMID:22619110 | PMID:22623428 | PMID:22658674 | PMID:22939629 | PMID:23110726 | PMID:23125841 | PMID:23170199 | PMID:23178491 | PMID:23402259 | PMID:23649804 | PMID:23752268 | PMID:23858473 |
PMID:24315095 | PMID:24344181 | PMID:24457600 | PMID:24581499 | PMID:24583282 | PMID:24639526 | PMID:24711643 | PMID:24722547 | PMID:24927568 | PMID:24938596 | PMID:24970816 | PMID:25609649 |
PMID:25631074 | PMID:25731161 | PMID:25744187 | PMID:25789545 | PMID:25921289 | PMID:25963833 | PMID:26094769 | PMID:26209609 | PMID:26344197 | PMID:26496610 | PMID:26549023 | PMID:26618866 |
PMID:26687479 | PMID:26831064 | PMID:27016207 | PMID:27342126 | PMID:27437069 | PMID:27609421 | PMID:27684187 | PMID:28007894 | PMID:28031328 | PMID:28330616 | PMID:28379780 | PMID:28514442 |
PMID:28515276 | PMID:28528776 | PMID:28977666 | PMID:29128334 | PMID:29234671 | PMID:29357390 | PMID:29467282 | PMID:29478914 | PMID:29491746 | PMID:29507755 | PMID:29568061 | PMID:30021884 |
PMID:30585729 | PMID:30692205 | PMID:30762072 | PMID:30884312 | PMID:30890647 | PMID:30948266 | PMID:30979931 | PMID:31046837 | PMID:31091453 | PMID:31180492 | PMID:31248990 | PMID:31375530 |
PMID:31519766 | PMID:31586073 | PMID:31588029 | PMID:31722399 | PMID:31732153 | PMID:31980649 | PMID:32041890 | PMID:32129710 | PMID:32203420 | PMID:32207633 | PMID:32235678 | PMID:32344865 |
PMID:32416067 | PMID:32433965 | PMID:32513696 | PMID:32529326 | PMID:32694731 | PMID:32780723 | PMID:32786267 | PMID:32788342 | PMID:32838362 | PMID:32941674 | PMID:33022573 | PMID:33091126 |
PMID:33111431 | PMID:33307343 | PMID:33397691 | PMID:33417871 | PMID:33536335 | PMID:33596420 | PMID:33916271 | PMID:33961781 | PMID:34168151 | PMID:34316702 | PMID:34373451 | PMID:34440706 |
PMID:34551306 | PMID:34591612 | PMID:34709266 | PMID:34728620 | PMID:34793452 | PMID:35013218 | PMID:35235311 | PMID:35271311 | PMID:35439318 | PMID:35446349 | PMID:35776542 | PMID:35785414 |
PMID:35831314 | PMID:35850772 | PMID:35944360 | PMID:35987950 | PMID:36057605 | PMID:36114006 | PMID:36168628 | PMID:36199071 | PMID:36215168 | PMID:36243803 | PMID:36373674 | PMID:36526897 |
PMID:36574265 | PMID:36594163 | PMID:36634849 | PMID:36779763 | PMID:36857168 | PMID:37071682 | PMID:37105989 | PMID:37249651 | PMID:37506885 | PMID:37516964 | PMID:37536630 | PMID:37643197 |
PMID:37689310 | PMID:37774976 | PMID:37827155 | PMID:38113892 | PMID:38223760 | PMID:38280479 | PMID:39147351 | PMID:39231216 | PMID:39358380 |
TPR (Homo sapiens - human) |
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Tpr (Mus musculus - house mouse) |
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Tpr (Rattus norvegicus - Norway rat) |
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Tpr (Chinchilla lanigera - long-tailed chinchilla) |
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TPR (Pan paniscus - bonobo/pygmy chimpanzee) |
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TPR (Canis lupus familiaris - dog) |
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Tpr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TPR (Sus scrofa - pig) |
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TPR (Chlorocebus sabaeus - green monkey) |
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Tpr (Heterocephalus glaber - naked mole-rat) |
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Variants in TPR
131 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 | copy number loss | See cases [RCV000053949] | Chr1:182137726..186931125 [GRCh38] Chr1:182106861..186900257 [GRCh37] Chr1:180373484..185166880 [NCBI36] Chr1:1q25.3-31.1 |
pathogenic |
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 | copy number loss | See cases [RCV000053948] | Chr1:179032905..199724897 [GRCh38] Chr1:179002040..199694025 [GRCh37] Chr1:177268663..197960648 [NCBI36] Chr1:1q25.2-32.1 |
pathogenic |
NM_003292.2(TPR):c.5240C>T (p.Ser1747Phe) | single nucleotide variant | Malignant melanoma [RCV000064388] | Chr1:186333337 [GRCh38] Chr1:186302469 [GRCh37] Chr1:184569092 [NCBI36] Chr1:1q31.1 |
not provided |
NM_001127708.2(PRG4):c.2239G>A (p.Glu747Lys) | single nucleotide variant | Malignant melanoma [RCV000060017] | Chr1:186308081 [GRCh38] Chr1:186277213 [GRCh37] Chr1:184543836 [NCBI36] Chr1:1q31.1 |
not provided |
NM_001127708.2(PRG4):c.1273G>A (p.Glu425Lys) | single nucleotide variant | Malignant melanoma [RCV000064386] | Chr1:186307115 [GRCh38] Chr1:186276247 [GRCh37] Chr1:184542870 [NCBI36] Chr1:1q31.1 |
not provided |
NM_001127708.2(PRG4):c.1336C>T (p.Pro446Ser) | single nucleotide variant | Malignant melanoma [RCV000064387] | Chr1:186307178 [GRCh38] Chr1:186276310 [GRCh37] Chr1:184542933 [NCBI36] Chr1:1q31.1 |
not provided |
NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter) | indel | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV000006009] | Chr1:186313753..186313754 [GRCh38] Chr1:186282885..186282886 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_005807.6(PRG4):c.4064C>G (p.Ser1355Ter) | single nucleotide variant | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV001784877] | Chr1:186312841 [GRCh38] Chr1:186281973 [GRCh37] Chr1:1q31.1 |
pathogenic |
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 | copy number loss | See cases [RCV000134144] | Chr1:176595962..196301688 [GRCh38] Chr1:176565098..196270818 [GRCh37] Chr1:174831721..194537441 [NCBI36] Chr1:1q25.2-31.3 |
pathogenic |
GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1 | copy number loss | See cases [RCV000133938] | Chr1:184888428..186622330 [GRCh38] Chr1:184857562..186591462 [GRCh37] Chr1:183124185..184858085 [NCBI36] Chr1:1q25.3-31.1 |
pathogenic |
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 | copy number gain | See cases [RCV000134876] | Chr1:171039975..186875957 [GRCh38] Chr1:171009116..186845089 [GRCh37] Chr1:169275740..185111712 [NCBI36] Chr1:1q24.3-31.1 |
pathogenic |
GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3 | copy number gain | See cases [RCV000138114] | Chr1:185959703..187743891 [GRCh38] Chr1:185928835..187713022 [GRCh37] Chr1:184195458..185979645 [NCBI36] Chr1:1q31.1 |
uncertain significance |
GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3 | copy number gain | See cases [RCV000141340] | Chr1:186356477..186580632 [GRCh38] Chr1:186325609..186549764 [GRCh37] Chr1:184592232..184816387 [NCBI36] Chr1:1q31.1 |
uncertain significance |
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 | copy number loss | See cases [RCV000142369] | Chr1:170929720..191065409 [GRCh38] Chr1:170898861..191034539 [GRCh37] Chr1:169165485..189301162 [NCBI36] Chr1:1q24.3-31.2 |
pathogenic |
GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3 | copy number gain | See cases [RCV000142712] | Chr1:185977899..187712734 [GRCh38] Chr1:185947031..187681865 [GRCh37] Chr1:184213654..185948488 [NCBI36] Chr1:1q31.1 |
uncertain significance |
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 | copy number loss | See cases [RCV000143688] | Chr1:170036068..187555148 [GRCh38] Chr1:170005209..187524280 [GRCh37] Chr1:168271833..185790903 [NCBI36] Chr1:1q24.2-31.1 |
pathogenic |
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 | copy number loss | See cases [RCV000240242] | Chr1:181572003..191524283 [GRCh37] Chr1:1q25.3-31.2 |
pathogenic |
NM_003292.3(TPR):c.1037T>C (p.Ile346Thr) | single nucleotide variant | Intellectual disability [RCV000578403] | Chr1:186360827 [GRCh38] Chr1:186329959 [GRCh37] Chr1:1q31.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 | copy number loss | See cases [RCV000445748] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q31.1(chr1:186328876-186430216)x3 | copy number gain | See cases [RCV000445821] | Chr1:186328876..186430216 [GRCh37] Chr1:1q31.1 |
uncertain significance |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 | copy number loss | See cases [RCV000448809] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 | copy number loss | See cases [RCV000448686] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 | copy number loss | See cases [RCV000512128] | Chr1:179011314..199022759 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_003292.3(TPR):c.412C>G (p.Leu138Val) | single nucleotide variant | not specified [RCV004308561] | Chr1:186367901 [GRCh38] Chr1:186337033 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3332A>G (p.Gln1111Arg) | single nucleotide variant | not specified [RCV004307845] | Chr1:186344460 [GRCh38] Chr1:186313592 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5701G>A (p.Gly1901Arg) | single nucleotide variant | not specified [RCV004302786] | Chr1:186327648 [GRCh38] Chr1:186296780 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6760A>G (p.Thr2254Ala) | single nucleotide variant | not specified [RCV004320943] | Chr1:186318508 [GRCh38] Chr1:186287640 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1726A>G (p.Ile576Val) | single nucleotide variant | not specified [RCV004309672] | Chr1:186356448 [GRCh38] Chr1:186325580 [GRCh37] Chr1:1q31.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 | copy number loss | not provided [RCV000736735] | Chr1:173131908..187406532 [GRCh37] Chr1:1q25.1-31.1 |
pathogenic |
GRCh37/hg19 1q31.1(chr1:186280235-186382460)x3 | copy number gain | not provided [RCV000736769] | Chr1:186280235..186382460 [GRCh37] Chr1:1q31.1 |
benign |
GRCh37/hg19 1q31.1(chr1:186281328-186390303)x3 | copy number gain | not provided [RCV000736770] | Chr1:186281328..186390303 [GRCh37] Chr1:1q31.1 |
benign |
GRCh37/hg19 1q31.1(chr1:186304298-186425526)x3 | copy number gain | not provided [RCV000736771] | Chr1:186304298..186425526 [GRCh37] Chr1:1q31.1 |
benign |
GRCh37/hg19 1q31.1(chr1:186307064-186835137)x3 | copy number gain | not provided [RCV000736772] | Chr1:186307064..186835137 [GRCh37] Chr1:1q31.1 |
benign |
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 | copy number gain | not provided [RCV000749265] | Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41 |
pathogenic |
NM_005807.6(PRG4):c.3848del (p.Gly1283fs) | deletion | not provided [RCV001532091] | Chr1:186312228 [GRCh38] Chr1:186281360 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_003292.3(TPR):c.2286G>A (p.Thr762=) | single nucleotide variant | not provided [RCV000970057] | Chr1:186353736 [GRCh38] Chr1:186322868 [GRCh37] Chr1:1q31.1 |
benign |
NM_003292.3(TPR):c.1941A>G (p.Thr647=) | single nucleotide variant | not provided [RCV000925341] | Chr1:186355716 [GRCh38] Chr1:186324848 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.3942G>A (p.Leu1314=) | single nucleotide variant | not provided [RCV000958849] | Chr1:186341106 [GRCh38] Chr1:186310238 [GRCh37] Chr1:1q31.1 |
benign |
NM_003292.3(TPR):c.5586C>T (p.Val1862=) | single nucleotide variant | not provided [RCV000925340] | Chr1:186332213 [GRCh38] Chr1:186301345 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.3675A>G (p.Arg1225=) | single nucleotide variant | not provided [RCV000901512] | Chr1:186343401 [GRCh38] Chr1:186312533 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.5495G>A (p.Arg1832His) | single nucleotide variant | not provided [RCV000949873] | Chr1:186332304 [GRCh38] Chr1:186301436 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.1399C>A (p.Arg467=) | single nucleotide variant | not provided [RCV000949874] | Chr1:186358641 [GRCh38] Chr1:186327773 [GRCh37] Chr1:1q31.1 |
benign|likely benign |
NM_003292.3(TPR):c.*1711A>G | single nucleotide variant | not provided [RCV000962932] | Chr1:186312260 [GRCh38] Chr1:186281392 [GRCh37] Chr1:1q31.1 |
benign|likely benign |
NM_003292.3(TPR):c.6059A>G (p.Glu2020Gly) | single nucleotide variant | not specified [RCV004311083] | Chr1:186325817 [GRCh38] Chr1:186294949 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6502C>T (p.Pro2168Ser) | single nucleotide variant | not provided [RCV000964112] | Chr1:186320378 [GRCh38] Chr1:186289510 [GRCh37] Chr1:1q31.1 |
benign |
NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del) | deletion | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV000845172] | Chr1:186312297..186312314 [GRCh38] Chr1:186281429..186281446 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) | single nucleotide variant | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV000845174] | Chr1:186312878 [GRCh38] Chr1:186282010 [GRCh37] Chr1:1q31.1 |
pathogenic |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
GRCh37/hg19 1q31.1(chr1:186318114-186573823)x3 | copy number gain | not provided [RCV000848284] | Chr1:186318114..186573823 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1554T>A (p.Asp518Glu) | single nucleotide variant | not specified [RCV004332875] | Chr1:186357567 [GRCh38] Chr1:186326699 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2610+5G>A | single nucleotide variant | Intellectual developmental disorder, autosomal recessive 79 [RCV003229585] | Chr1:186351325 [GRCh38] Chr1:186320457 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_003292.3(TPR):c.3720T>C (p.Asp1240=) | single nucleotide variant | not provided [RCV000932571] | Chr1:186343356 [GRCh38] Chr1:186312488 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.3443G>A (p.Arg1148His) | single nucleotide variant | not provided [RCV000879254] | Chr1:186344065 [GRCh38] Chr1:186313197 [GRCh37] Chr1:1q31.1 |
benign |
NM_003292.3(TPR):c.*1087G>T | single nucleotide variant | not provided [RCV000907561] | Chr1:186312884 [GRCh38] Chr1:186282016 [GRCh37] Chr1:1q31.1 |
benign|likely benign |
NM_003292.3(TPR):c.3116C>T (p.Thr1039Ile) | single nucleotide variant | not provided [RCV000888562] | Chr1:186345677 [GRCh38] Chr1:186314809 [GRCh37] Chr1:1q31.1 |
likely benign |
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 | copy number loss | not provided [RCV001005157] | Chr1:177551193..199599056 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_005807.6(PRG4):c.4013_4014del (p.Lys1338fs) | deletion | not provided [RCV001312114] | Chr1:186312789..186312790 [GRCh38] Chr1:186281921..186281922 [GRCh37] Chr1:1q31.1 |
likely pathogenic |
NM_005807.6(PRG4):c.4107del (p.Ser1371fs) | deletion | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV001334452] | Chr1:186312883 [GRCh38] Chr1:186282015 [GRCh37] Chr1:1q31.1 |
pathogenic |
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 | copy number loss | not provided [RCV001836604] | Chr1:178522021..190322133 [GRCh37] Chr1:1q25.2-31.1 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) | copy number loss | not specified [RCV002053736] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) | copy number loss | not specified [RCV002053769] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) | copy number loss | not specified [RCV002053780] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NC_000001.10:g.(?_185703912)_(186957640_?)dup | duplication | not provided [RCV003122652] | Chr1:185703912..186957640 [GRCh37] Chr1:1q25.3-31.1 |
uncertain significance |
NM_003292.3(TPR):c.991G>A (p.Val331Met) | single nucleotide variant | not specified [RCV004313133] | Chr1:186360873 [GRCh38] Chr1:186330005 [GRCh37] Chr1:1q31.1 |
uncertain significance |
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 | copy number loss | not provided [RCV002473949] | Chr1:179727182..192260142 [GRCh37] Chr1:1q25.2-31.2 |
pathogenic |
GRCh37/hg19 1q31.1(chr1:186137950-187028283)x3 | copy number gain | not provided [RCV002473872] | Chr1:186137950..187028283 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter) | single nucleotide variant | Intellectual developmental disorder, autosomal recessive 79 [RCV003229584] | Chr1:186318772 [GRCh38] Chr1:186287904 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_003292.3(TPR):c.3667C>T (p.Arg1223Cys) | single nucleotide variant | not specified [RCV004138825] | Chr1:186343409 [GRCh38] Chr1:186312541 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1141A>G (p.Thr381Ala) | single nucleotide variant | not specified [RCV004133129] | Chr1:186360323 [GRCh38] Chr1:186329455 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5005A>G (p.Ile1669Val) | single nucleotide variant | not specified [RCV004150822] | Chr1:186334502 [GRCh38] Chr1:186303634 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4087G>A (p.Val1363Ile) | single nucleotide variant | not specified [RCV004097987] | Chr1:186339706 [GRCh38] Chr1:186308838 [GRCh37] Chr1:1q31.1 |
uncertain significance |
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 | copy number gain | not provided [RCV002475637] | Chr1:181453460..213107248 [GRCh37] Chr1:1q25.3-32.3 |
pathogenic |
NM_003292.3(TPR):c.1336C>T (p.Arg446Cys) | single nucleotide variant | not specified [RCV004199798] | Chr1:186359852 [GRCh38] Chr1:186328984 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3329G>A (p.Arg1110His) | single nucleotide variant | not specified [RCV004208367] | Chr1:186344463 [GRCh38] Chr1:186313595 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1844G>A (p.Arg615His) | single nucleotide variant | not specified [RCV004187046] | Chr1:186356330 [GRCh38] Chr1:186325462 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6434G>C (p.Arg2145Pro) | single nucleotide variant | not specified [RCV004113671] | Chr1:186322345 [GRCh38] Chr1:186291477 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5614A>G (p.Met1872Val) | single nucleotide variant | not specified [RCV004216588] | Chr1:186331572 [GRCh38] Chr1:186300704 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2731A>G (p.Met911Val) | single nucleotide variant | not specified [RCV004225264] | Chr1:186350268 [GRCh38] Chr1:186319400 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.746A>T (p.His249Leu) | single nucleotide variant | not specified [RCV004116030] | Chr1:186362331 [GRCh38] Chr1:186331463 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.314G>T (p.Arg105Leu) | single nucleotide variant | not specified [RCV004204442] | Chr1:186370986 [GRCh38] Chr1:186340118 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3259A>G (p.Met1087Val) | single nucleotide variant | not specified [RCV004163903] | Chr1:186344533 [GRCh38] Chr1:186313665 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.3850del (p.Arg1284fs) | deletion | not provided [RCV003036090] | Chr1:186312230 [GRCh38] Chr1:186281362 [GRCh37] Chr1:1q31.1 |
pathogenic |
NM_003292.3(TPR):c.89C>G (p.Ala30Gly) | single nucleotide variant | not specified [RCV004178158] | Chr1:186374940 [GRCh38] Chr1:186344072 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3064A>C (p.Lys1022Gln) | single nucleotide variant | not specified [RCV004206346] | Chr1:186346167 [GRCh38] Chr1:186315299 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3529G>C (p.Gly1177Arg) | single nucleotide variant | not specified [RCV004074278] | Chr1:186343979 [GRCh38] Chr1:186313111 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.4015G>A (p.Val1339Met) | single nucleotide variant | Inborn genetic diseases [RCV002738553] | Chr1:186312792 [GRCh38] Chr1:186281924 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5891A>T (p.Asp1964Val) | single nucleotide variant | not specified [RCV004092856] | Chr1:186326234 [GRCh38] Chr1:186295366 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5056A>G (p.Met1686Val) | single nucleotide variant | not specified [RCV004236153] | Chr1:186334451 [GRCh38] Chr1:186303583 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4027G>C (p.Val1343Leu) | single nucleotide variant | not specified [RCV004232842] | Chr1:186339766 [GRCh38] Chr1:186308898 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2897A>G (p.Gln966Arg) | single nucleotide variant | not specified [RCV004133960] | Chr1:186347338 [GRCh38] Chr1:186316470 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.2408A>T (p.Glu803Val) | single nucleotide variant | not specified [RCV004115718] | Chr1:186352037 [GRCh38] Chr1:186321169 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.4034G>T (p.Gly1345Val) | single nucleotide variant | Inborn genetic diseases [RCV002708962] | Chr1:186312811 [GRCh38] Chr1:186281943 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3048A>C (p.Gln1016His) | single nucleotide variant | not specified [RCV004227930] | Chr1:186346183 [GRCh38] Chr1:186315315 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3852G>C (p.Glu1284Asp) | single nucleotide variant | not specified [RCV004114645] | Chr1:186341288 [GRCh38] Chr1:186310420 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3378G>C (p.Glu1126Asp) | single nucleotide variant | not specified [RCV004143021] | Chr1:186344414 [GRCh38] Chr1:186313546 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2437A>C (p.Asn813His) | single nucleotide variant | not specified [RCV004137179] | Chr1:186352008 [GRCh38] Chr1:186321140 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1070A>G (p.Asn357Ser) | single nucleotide variant | not specified [RCV004154484] | Chr1:186360794 [GRCh38] Chr1:186329926 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5935A>C (p.Thr1979Pro) | single nucleotide variant | not specified [RCV004195702] | Chr1:186326190 [GRCh38] Chr1:186295322 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5755G>A (p.Asp1919Asn) | single nucleotide variant | not specified [RCV004154617] | Chr1:186327594 [GRCh38] Chr1:186296726 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.278C>T (p.Thr93Ile) | single nucleotide variant | not specified [RCV004158302] | Chr1:186371022 [GRCh38] Chr1:186340154 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4586G>A (p.Arg1529His) | single nucleotide variant | not specified [RCV004212418] | Chr1:186336615 [GRCh38] Chr1:186305747 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5833G>A (p.Val1945Ile) | single nucleotide variant | not specified [RCV004178944] | Chr1:186327516 [GRCh38] Chr1:186296648 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5203G>A (p.Val1735Met) | single nucleotide variant | not specified [RCV004133224] | Chr1:186333374 [GRCh38] Chr1:186302506 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6626G>A (p.Arg2209Gln) | single nucleotide variant | not specified [RCV004136535] | Chr1:186318771 [GRCh38] Chr1:186287903 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3578A>C (p.Gln1193Pro) | single nucleotide variant | not specified [RCV004132136] | Chr1:186343930 [GRCh38] Chr1:186313062 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.4127A>G (p.Tyr1376Cys) | single nucleotide variant | Inborn genetic diseases [RCV002657560] | Chr1:186313690 [GRCh38] Chr1:186282822 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.920T>G (p.Val307Gly) | single nucleotide variant | not specified [RCV004278179] | Chr1:186361660 [GRCh38] Chr1:186330792 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.839A>T (p.Asn280Ile) | single nucleotide variant | not specified [RCV004278618] | Chr1:186361820 [GRCh38] Chr1:186330952 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4060T>C (p.Tyr1354His) | single nucleotide variant | not specified [RCV004270248] | Chr1:186339733 [GRCh38] Chr1:186308865 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2261A>G (p.Gln754Arg) | single nucleotide variant | not specified [RCV004285348] | Chr1:186353761 [GRCh38] Chr1:186322893 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3811G>A (p.Val1271Ile) | single nucleotide variant | not specified [RCV004277129] | Chr1:186341329 [GRCh38] Chr1:186310461 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6710C>G (p.Ala2237Gly) | single nucleotide variant | not specified [RCV004263906] | Chr1:186318558 [GRCh38] Chr1:186287690 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.3914A>G (p.Glu1305Gly) | single nucleotide variant | Inborn genetic diseases [RCV003209442] | Chr1:186312295 [GRCh38] Chr1:186281427 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5532C>A (p.Asp1844Glu) | single nucleotide variant | not specified [RCV004261732] | Chr1:186332267 [GRCh38] Chr1:186301399 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1931G>A (p.Arg644His) | single nucleotide variant | not specified [RCV004274354] | Chr1:186355726 [GRCh38] Chr1:186324858 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.599A>C (p.Glu200Ala) | single nucleotide variant | not provided [RCV003326767] | Chr1:186362934 [GRCh38] Chr1:186332066 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.5119A>G (p.Thr1707Ala) | single nucleotide variant | not provided [RCV003421308] | Chr1:186334388 [GRCh38] Chr1:186303520 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.811A>T (p.Met271Leu) | single nucleotide variant | not provided [RCV003421311] | Chr1:186361848 [GRCh38] Chr1:186330980 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.1924C>G (p.Pro642Ala) | single nucleotide variant | not specified [RCV004348057] | Chr1:186355733 [GRCh38] Chr1:186324865 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2966A>G (p.Asn989Ser) | single nucleotide variant | not specified [RCV004356386] | Chr1:186346265 [GRCh38] Chr1:186315397 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.314G>A (p.Arg105His) | single nucleotide variant | not specified [RCV004338380] | Chr1:186370986 [GRCh38] Chr1:186340118 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.688A>G (p.Lys230Glu) | single nucleotide variant | not specified [RCV004345480] | Chr1:186362845 [GRCh38] Chr1:186331977 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5627G>C (p.Ser1876Thr) | single nucleotide variant | not specified [RCV004360423] | Chr1:186331559 [GRCh38] Chr1:186300691 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1886A>G (p.His629Arg) | single nucleotide variant | not specified [RCV004352156] | Chr1:186356288 [GRCh38] Chr1:186325420 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.4089C>T (p.Asp1363=) | single nucleotide variant | not provided [RCV003421307] | Chr1:186312866 [GRCh38] Chr1:186281998 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_003292.3(TPR):c.2310A>G (p.Ala770=) | single nucleotide variant | not provided [RCV003421309] | Chr1:186353712 [GRCh38] Chr1:186322844 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter) | single nucleotide variant | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV003388654] | Chr1:186312806 [GRCh38] Chr1:186281938 [GRCh37] Chr1:1q31.1 |
likely pathogenic |
NM_003292.3(TPR):c.2175T>C (p.Tyr725=) | single nucleotide variant | not provided [RCV003421310] | Chr1:186353847 [GRCh38] Chr1:186322979 [GRCh37] Chr1:1q31.1 |
likely benign |
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 | copy number loss | not specified [RCV003987250] | Chr1:167994071..187711459 [GRCh37] Chr1:1q24.2-31.1 |
pathogenic |
NM_005807.6(PRG4):c.3964C>T (p.Pro1322Ser) | single nucleotide variant | Inborn genetic diseases [RCV004515004] | Chr1:186312345 [GRCh38] Chr1:186281477 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.3813T>C (p.Tyr1271=) | single nucleotide variant | PRG4-related disorder [RCV003974084] | Chr1:186312194 [GRCh38] Chr1:186281326 [GRCh37] Chr1:1q31.1 |
likely benign |
NM_005807.6(PRG4):c.3887C>T (p.Thr1296Met) | single nucleotide variant | PRG4-related disorder [RCV003916777] | Chr1:186312268 [GRCh38] Chr1:186281400 [GRCh37] Chr1:1q31.1 |
benign |
NM_003292.3(TPR):c.5680A>G (p.Ile1894Val) | single nucleotide variant | not specified [RCV004470943] | Chr1:186331506 [GRCh38] Chr1:186300638 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5752A>G (p.Ile1918Val) | single nucleotide variant | not specified [RCV004470944] | Chr1:186327597 [GRCh38] Chr1:186296729 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1400G>A (p.Arg467Gln) | single nucleotide variant | not specified [RCV004470934] | Chr1:186358640 [GRCh38] Chr1:186327772 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1904A>T (p.Asp635Val) | single nucleotide variant | not specified [RCV004470935] | Chr1:186355753 [GRCh38] Chr1:186324885 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1133T>C (p.Met378Thr) | single nucleotide variant | not specified [RCV004470930] | Chr1:186360331 [GRCh38] Chr1:186329463 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1162A>G (p.Ile388Val) | single nucleotide variant | not specified [RCV004470931] | Chr1:186360302 [GRCh38] Chr1:186329434 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1322G>A (p.Arg441His) | single nucleotide variant | not specified [RCV004470933] | Chr1:186359866 [GRCh38] Chr1:186328998 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2147C>A (p.Thr716Asn) | single nucleotide variant | not specified [RCV004470936] | Chr1:186355434 [GRCh38] Chr1:186324566 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2380T>A (p.Ser794Thr) | single nucleotide variant | not specified [RCV004470937] | Chr1:186352065 [GRCh38] Chr1:186321197 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3196C>T (p.Arg1066Cys) | single nucleotide variant | not specified [RCV004470938] | Chr1:186345597 [GRCh38] Chr1:186314729 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5177A>T (p.Gln1726Leu) | single nucleotide variant | not specified [RCV004470942] | Chr1:186334330 [GRCh38] Chr1:186303462 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5922T>A (p.Asp1974Glu) | single nucleotide variant | not specified [RCV004470945] | Chr1:186326203 [GRCh38] Chr1:186295335 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5997T>A (p.Asp1999Glu) | single nucleotide variant | not specified [RCV004470946] | Chr1:186326128 [GRCh38] Chr1:186295260 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6430C>T (p.His2144Tyr) | single nucleotide variant | not specified [RCV004470947] | Chr1:186322349 [GRCh38] Chr1:186291481 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4786G>A (p.Asp1596Asn) | single nucleotide variant | not specified [RCV004470941] | Chr1:186335463 [GRCh38] Chr1:186304595 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6902C>T (p.Pro2301Leu) | single nucleotide variant | not specified [RCV004470948] | Chr1:186317520 [GRCh38] Chr1:186286652 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1979T>C (p.Ile660Thr) | single nucleotide variant | not provided [RCV004585250] | Chr1:186355678 [GRCh38] Chr1:186324810 [GRCh37] Chr1:1q31.1 |
benign |
NM_003292.3(TPR):c.3208G>A (p.Glu1070Lys) | single nucleotide variant | not specified [RCV004470939] | Chr1:186345585 [GRCh38] Chr1:186314717 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.108C>G (p.Ile36Met) | single nucleotide variant | not specified [RCV004470929] | Chr1:186374921 [GRCh38] Chr1:186344053 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1316G>A (p.Arg439His) | single nucleotide variant | not specified [RCV004470932] | Chr1:186359872 [GRCh38] Chr1:186329004 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3674G>A (p.Arg1225Gln) | single nucleotide variant | not specified [RCV004470940] | Chr1:186343402 [GRCh38] Chr1:186312534 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6947G>A (p.Ser2316Asn) | single nucleotide variant | not specified [RCV004470949] | Chr1:186314718 [GRCh38] Chr1:186283850 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1478T>C (p.Val493Ala) | single nucleotide variant | not specified [RCV004687600] | Chr1:186358562 [GRCh38] Chr1:186327694 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.809G>T (p.Ser270Ile) | single nucleotide variant | not specified [RCV004687602] | Chr1:186361850 [GRCh38] Chr1:186330982 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1027C>G (p.Leu343Val) | single nucleotide variant | not specified [RCV004677325] | Chr1:186360837 [GRCh38] Chr1:186329969 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1901A>G (p.Asp634Gly) | single nucleotide variant | not specified [RCV004677326] | Chr1:186355756 [GRCh38] Chr1:186324888 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1846A>G (p.Ile616Val) | single nucleotide variant | not specified [RCV004677327] | Chr1:186356328 [GRCh38] Chr1:186325460 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.914G>A (p.Arg305Gln) | single nucleotide variant | not specified [RCV004677328] | Chr1:186361666 [GRCh38] Chr1:186330798 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.758A>G (p.His253Arg) | single nucleotide variant | not specified [RCV004677329] | Chr1:186362319 [GRCh38] Chr1:186331451 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.4270A>G (p.Ile1424Val) | single nucleotide variant | not specified [RCV004677330] | Chr1:186338125 [GRCh38] Chr1:186307257 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5780A>G (p.Gln1927Arg) | single nucleotide variant | not specified [RCV004677331] | Chr1:186327569 [GRCh38] Chr1:186296701 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3927A>T (p.Glu1309Asp) | single nucleotide variant | not specified [RCV004677332] | Chr1:186341121 [GRCh38] Chr1:186310253 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2765G>T (p.Arg922Ile) | single nucleotide variant | not specified [RCV004677333] | Chr1:186350234 [GRCh38] Chr1:186319366 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.5098A>T (p.Met1700Leu) | single nucleotide variant | not specified [RCV004677334] | Chr1:186334409 [GRCh38] Chr1:186303541 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.6424G>A (p.Val2142Met) | single nucleotide variant | not specified [RCV004677335] | Chr1:186322355 [GRCh38] Chr1:186291487 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3541C>A (p.Pro1181Thr) | single nucleotide variant | not specified [RCV004677336] | Chr1:186343967 [GRCh38] Chr1:186313099 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.190A>G (p.Ser64Gly) | single nucleotide variant | not specified [RCV004677337] | Chr1:186373425 [GRCh38] Chr1:186342557 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3073G>A (p.Ala1025Thr) | single nucleotide variant | not specified [RCV004677338] | Chr1:186346158 [GRCh38] Chr1:186315290 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.473C>T (p.Thr158Ile) | single nucleotide variant | not specified [RCV004677339] | Chr1:186363400 [GRCh38] Chr1:186332532 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.1664T>C (p.Val555Ala) | single nucleotide variant | not specified [RCV004687601] | Chr1:186357457 [GRCh38] Chr1:186326589 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.2423A>T (p.Glu808Val) | single nucleotide variant | not specified [RCV004677340] | Chr1:186352022 [GRCh38] Chr1:186321154 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_003292.3(TPR):c.3749A>C (p.Gln1250Pro) | single nucleotide variant | not specified [RCV004677341] | Chr1:186343327 [GRCh38] Chr1:186312459 [GRCh37] Chr1:1q31.1 |
uncertain significance |
NM_005807.6(PRG4):c.3905_3909del (p.Arg1302fs) | deletion | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [RCV004764587] | Chr1:186312285..186312289 [GRCh38] Chr1:186281417..186281421 [GRCh37] Chr1:1q31.1 |
likely pathogenic |
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. |
G31461 |
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RH80846 |
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G62041 |
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SHGC-110732 |
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D11S3114 |
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L18426 |
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D8S2279 |
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G19412 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_023284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_003292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA688415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF172081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF181668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL133553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL596220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC025177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M15326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U69668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X63105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X66397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X94207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X94208 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y00672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000367478 ⟹ ENSP00000356448 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000451586 ⟹ ENSP00000408103 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000467810 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000469463 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000474852 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000481347 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000491783 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000492973 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000613151 ⟹ ENSP00000483425 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_003292 ⟹ NP_003283 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_003283 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB48030 | (Get FASTA) | NCBI Sequence Viewer |
AAH16514 | (Get FASTA) | NCBI Sequence Viewer | |
AAH25177 | (Get FASTA) | NCBI Sequence Viewer | |
AAH94764 | (Get FASTA) | NCBI Sequence Viewer | |
CAA44819 | (Get FASTA) | NCBI Sequence Viewer | |
CAA47021 | (Get FASTA) | NCBI Sequence Viewer | |
CAA63904 | (Get FASTA) | NCBI Sequence Viewer | |
CAA68681 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91203 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91204 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91205 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91206 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000356448 | ||
ENSP00000356448.3 | |||
ENSP00000408103.1 | |||
ENSP00000483425.1 | |||
GenBank Protein | P12270 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003283 ⟸ NM_003292 |
- UniProtKB: | Q5SWY0 (UniProtKB/Swiss-Prot), Q15624 (UniProtKB/Swiss-Prot), Q99968 (UniProtKB/Swiss-Prot), P12270 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000408103 ⟸ ENST00000451586 |
Ensembl Acc Id: | ENSP00000483425 ⟸ ENST00000613151 |
Ensembl Acc Id: | ENSP00000356448 ⟸ ENST00000367478 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P12270-F1-model_v2 | AlphaFold | P12270 | 1-2363 | view protein structure |
RGD ID: | 6787062 | ||||||||
Promoter ID: | HG_KWN:6580 | ||||||||
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: | ENST00000367472, NM_001164245, NM_001164246, NM_003292, OTTHUMT00000086352, OTTHUMT00000086354, OTTHUMT00000086355, UC001GRW.1, UC009WYN.1 | ||||||||
Position: |
|
RGD ID: | 6858398 | ||||||||
Promoter ID: | EPDNEW_H2364 | ||||||||
Type: | initiation region | ||||||||
Name: | TPR_1 | ||||||||
Description: | translocated promoter region, nuclear basket protein | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2366 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6858402 | ||||||||
Promoter ID: | EPDNEW_H2366 | ||||||||
Type: | initiation region | ||||||||
Name: | TPR_2 | ||||||||
Description: | translocated promoter region, nuclear basket protein | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2364 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:12017 | AgrOrtholog |
COSMIC | TPR | COSMIC |
Ensembl Genes | ENSG00000047410 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000367478 | ENTREZGENE |
ENST00000367478.9 | UniProtKB/Swiss-Prot | |
ENST00000451586.1 | UniProtKB/TrEMBL | |
ENST00000613151.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.287.1490 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000047410 | GTEx |
HGNC ID | HGNC:12017 | ENTREZGENE |
Human Proteome Map | TPR | Human Proteome Map |
InterPro | TPR/MLP1 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:7175 | UniProtKB/Swiss-Prot |
NCBI Gene | 7175 | ENTREZGENE |
OMIM | 189940 | OMIM |
PANTHER | NUCLEOPROTEIN TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NUCLEOPROTEIN TPR-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | TPR_MLP1_2 | UniProtKB/Swiss-Prot |
PharmGKB | PA36696 | PharmGKB |
UniProt | A0PJC9_HUMAN | UniProtKB/TrEMBL |
P12270 | ENTREZGENE | |
Q15624 | ENTREZGENE | |
Q504U6_HUMAN | UniProtKB/TrEMBL | |
Q58F23_HUMAN | UniProtKB/TrEMBL | |
Q5SWX9_HUMAN | UniProtKB/TrEMBL | |
Q5SWY0 | ENTREZGENE | |
Q99968 | ENTREZGENE | |
Q9UE33_HUMAN | UniProtKB/TrEMBL | |
TPR_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q15624 | UniProtKB/Swiss-Prot |
Q15655 | UniProtKB/Swiss-Prot | |
Q5SWY0 | UniProtKB/Swiss-Prot | |
Q99968 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2012-03-20 | TPR | translocated promoter region, nuclear basket protein | TPR | translocated promoter region (to activated MET oncogene) | Symbol and/or name change | 5135510 | APPROVED |