LOC107303339 (3p25 BRK1 Alu-mediated recombination region) - Rat Genome Database

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Gene: LOC107303339 (3p25 BRK1 Alu-mediated recombination region) Homo sapiens
Analyze
Symbol: LOC107303339
Name: 3p25 BRK1 Alu-mediated recombination region
RGD ID: 38631011
Description: This biological region overlaps the BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region, the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region, and the 3p25 TatD DNase domain containing 2 Alu-mediated recombination region, located about 3 kb, 26kb, and 115 kb downstream of this region on the reference genome, respectively. Recombination between these regions can result in deletion of the intervening sequences, including the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. Deletion of the VHL gene is one cause of Von Hippel-Lindau syndrome, which is inherited in autosomal dominant manner and predisposes individuals to multiple tumors. Deletions of various size have been reported, many of which are the result of Alu-mediated recombination. The severity of the disease is dependent on both the size and location of the deletion. This recombination region is composed of multiple sub-regions, representing different regions in which Alu-mediated recombination has been observed. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the proline rich transmembrane protein 3 (PRRT3) gene and the Fanconi anemia complementation group D2 (FANCD2) gene. [provided by RefSeq, Mar 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38310,120,032 - 10,138,833 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37310,161,716 - 10,180,517 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p25NCBI
T2T-CHM13v2.0310,112,252 - 10,131,725 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Renal cyst  (IAGP)
References
Additional References at PubMed
PMID:9829911   PMID:10830910   PMID:12114495   PMID:14695531   PMID:15300849   PMID:15608663   PMID:15758713   PMID:16630138   PMID:16884328   PMID:17024664   PMID:17311301   PMID:17537157  
PMID:17661816   PMID:19014668   PMID:19280651   PMID:24555745  


Genomics

Variants

.
Variants in LOC107303339
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000003.12:g.10135142_10143568del deletion Von Hippel-Lindau syndrome [RCV001293297] Chr3:10135115..10143541 [GRCh38]
Chr3:10176799..10185225 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_018462.5(BRK1):c.119-3877dup duplication not provided [RCV001608757] Chr3:10121736..10121737 [GRCh38]
Chr3:10163420..10163421 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2019del deletion not provided [RCV001667257] Chr3:10123602 [GRCh38]
Chr3:10165286 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10128062G>C single nucleotide variant not provided [RCV001667304] Chr3:10128062 [GRCh38]
Chr3:10169746 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3878_119-3877dup duplication not provided [RCV001612904] Chr3:10121736..10121737 [GRCh38]
Chr3:10163420..10163421 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2527A>G single nucleotide variant not provided [RCV001666610] Chr3:10123099 [GRCh38]
Chr3:10164783 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.118+4393dup duplication not provided [RCV001679704] Chr3:10120199..10120200 [GRCh38]
Chr3:10161883..10161884 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10128345C>T single nucleotide variant not provided [RCV001668668] Chr3:10128345 [GRCh38]
Chr3:10170029 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2046G>A single nucleotide variant not provided [RCV001648857] Chr3:10123580 [GRCh38]
Chr3:10165264 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127430G>A single nucleotide variant not provided [RCV001641525] Chr3:10127430 [GRCh38]
Chr3:10169114 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.118+4228dup duplication not provided [RCV001599077] Chr3:10120037..10120038 [GRCh38]
Chr3:10161721..10161722 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3585C>A single nucleotide variant not provided [RCV001695583] Chr3:10122041 [GRCh38]
Chr3:10163725 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127327C>T single nucleotide variant not provided [RCV001695713] Chr3:10127327 [GRCh38]
Chr3:10169011 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1612C>T single nucleotide variant not provided [RCV001682376] Chr3:10124014 [GRCh38]
Chr3:10165698 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3002G>A single nucleotide variant not provided [RCV001649150] Chr3:10122624 [GRCh38]
Chr3:10164308 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3577T>C single nucleotide variant not provided [RCV001714427] Chr3:10122049 [GRCh38]
Chr3:10163733 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1745A>G single nucleotide variant not provided [RCV001718063] Chr3:10123881 [GRCh38]
Chr3:10165565 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-465G>A single nucleotide variant not provided [RCV001718065] Chr3:10125161 [GRCh38]
Chr3:10166845 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1970_119-1969insTG insertion not provided [RCV001639925] Chr3:10123656..10123657 [GRCh38]
Chr3:10165340..10165341 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2588T>G single nucleotide variant not provided [RCV001672046] Chr3:10123038 [GRCh38]
Chr3:10164722 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.*806T>C single nucleotide variant not provided [RCV001674796] Chr3:10127101 [GRCh38]
Chr3:10168785 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-904G>A single nucleotide variant not provided [RCV001650056] Chr3:10124722 [GRCh38]
Chr3:10166406 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1401C>T single nucleotide variant not provided [RCV001652229] Chr3:10124225 [GRCh38]
Chr3:10165909 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1968T>A single nucleotide variant not provided [RCV001714436] Chr3:10123658 [GRCh38]
Chr3:10165342 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1599G>T single nucleotide variant not provided [RCV001718064] Chr3:10124027 [GRCh38]
Chr3:10165711 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127208T>G single nucleotide variant not provided [RCV001684607] Chr3:10127208 [GRCh38]
Chr3:10168892 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2009A>G single nucleotide variant not provided [RCV001716771] Chr3:10123617 [GRCh38]
Chr3:10165301 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1972_119-1971del microsatellite not provided [RCV001717079] Chr3:10123652..10123653 [GRCh38]
Chr3:10165336..10165337 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.*885A>C single nucleotide variant not provided [RCV001688736] Chr3:10127180 [GRCh38]
Chr3:10168864 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127819C>T single nucleotide variant not provided [RCV001676092] Chr3:10127819 [GRCh38]
Chr3:10169503 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1875_119-1873dup duplication not provided [RCV001687537] Chr3:10123732..10123733 [GRCh38]
Chr3:10165416..10165417 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.201+279A>G single nucleotide variant not provided [RCV001638788] Chr3:10125987 [GRCh38]
Chr3:10167671 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.202-163G>A single nucleotide variant not provided [RCV001654941] Chr3:10126106 [GRCh38]
Chr3:10167790 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2963G>C single nucleotide variant not provided [RCV001713948] Chr3:10122663 [GRCh38]
Chr3:10164347 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1873dup duplication not provided [RCV001663160] Chr3:10123732..10123733 [GRCh38]
Chr3:10165416..10165417 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3078dup duplication not provided [RCV001641001] Chr3:10122544..10122545 [GRCh38]
Chr3:10164228..10164229 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3077C>A single nucleotide variant not provided [RCV001621788] Chr3:10122549 [GRCh38]
Chr3:10164233 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1988G>C single nucleotide variant not provided [RCV001613561] Chr3:10123638 [GRCh38]
Chr3:10165322 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3872C>T single nucleotide variant not provided [RCV001619729] Chr3:10121754 [GRCh38]
Chr3:10163438 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1299dup duplication not provided [RCV001661232] Chr3:10124325..10124326 [GRCh38]
Chr3:10166009..10166010 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127221C>T single nucleotide variant not provided [RCV001686854] Chr3:10127221 [GRCh38]
Chr3:10168905 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127281G>A single nucleotide variant not provided [RCV001715730] Chr3:10127281 [GRCh38]
Chr3:10168965 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-198G>A single nucleotide variant not provided [RCV001715729] Chr3:10125428 [GRCh38]
Chr3:10167112 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127872A>T single nucleotide variant not provided [RCV001659198] Chr3:10127872 [GRCh38]
Chr3:10169556 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10127283G>A single nucleotide variant not provided [RCV001648863] Chr3:10127283 [GRCh38]
Chr3:10168967 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-891T>C single nucleotide variant not provided [RCV001713183] Chr3:10124735 [GRCh38]
Chr3:10166419 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-4070dup duplication not provided [RCV001651878] Chr3:10121546..10121547 [GRCh38]
Chr3:10163230..10163231 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1978A>C single nucleotide variant not provided [RCV001609836] Chr3:10123648 [GRCh38]
Chr3:10165332 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1465T>A single nucleotide variant not provided [RCV001679985] Chr3:10124161 [GRCh38]
Chr3:10165845 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.201+184T>A single nucleotide variant not provided [RCV001652118] Chr3:10125892 [GRCh38]
Chr3:10167576 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-2178_119-2173dup duplication not provided [RCV001611357] Chr3:10123438..10123439 [GRCh38]
Chr3:10165122..10165123 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1371C>T single nucleotide variant not provided [RCV001690368] Chr3:10124255 [GRCh38]
Chr3:10165939 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3651C>T single nucleotide variant not provided [RCV001610259] Chr3:10121975 [GRCh38]
Chr3:10163659 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-46G>C single nucleotide variant not provided [RCV001714445] Chr3:10125580 [GRCh38]
Chr3:10167264 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3516T>G single nucleotide variant not provided [RCV001652539] Chr3:10122110 [GRCh38]
Chr3:10163794 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1985A>G single nucleotide variant not provided [RCV001714435] Chr3:10123641 [GRCh38]
Chr3:10165325 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.*823A>G single nucleotide variant not provided [RCV001714447] Chr3:10127118 [GRCh38]
Chr3:10168802 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10128041G>A single nucleotide variant not provided [RCV001714451] Chr3:10128041 [GRCh38]
Chr3:10169725 [GRCh37]
Chr3:3p25.3		 benign
GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1 copy number loss See cases [RCV000137755] Chr3:9875909..10572677 [GRCh38]
Chr3:9917593..10614361 [GRCh37]
Chr3:9892593..10589361 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1 copy number loss See cases [RCV000134249] Chr3:9896061..10220962 [GRCh38]
Chr3:9937745..10262646 [GRCh37]
Chr3:9912745..10237646 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 copy number loss See cases [RCV000137433] Chr3:9394874..11690612 [GRCh38]
Chr3:9436558..11732086 [GRCh37]
Chr3:9411558..11707086 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
NC_000003.11:g.(?_10094061)_(10191659_?)dup duplication Chuvash polycythemia [RCV000810679] Chr3:10052377..10149975 [GRCh38]
Chr3:10094061..10191659 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3 copy number gain See cases [RCV000138535] Chr3:8941623..10151752 [GRCh38]
Chr3:8983307..10193436 [GRCh37]
Chr3:8958307..10168436 [NCBI36]
Chr3:3p25.3		 likely benign|uncertain significance
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
NC_000003.12:g.10133799_10141895del deletion Renal cyst [RCV000414960] Chr3:10133799..10141895 [GRCh38]
Chr3:10175483..10183579 [GRCh37]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 copy number gain See cases [RCV000135641] Chr3:8038727..11240931 [GRCh38]
Chr3:8080414..11282617 [GRCh37]
Chr3:8055414..11257617 [NCBI36]
Chr3:3p26.1-25.3		 likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1 copy number loss See cases [RCV000051482] Chr3:9654297..10228687 [GRCh38]
Chr3:9695981..10270371 [GRCh37]
Chr3:9670981..10245371 [NCBI36]
Chr3:3p25.3		 pathogenic
NC_000003.12:g.(?_10052377)_(10149975_?)del deletion Chuvash polycythemia [RCV000823975] Chr3:10052377..10149975 [GRCh38]
Chr3:10094061..10191659 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_018462.5(BRK1):c.119-1991T>C single nucleotide variant not provided [RCV001641625] Chr3:10123635 [GRCh38]
Chr3:10165319 [GRCh37]
Chr3:3p25.3		 benign
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
NC_000003.12:g.(?_10064723)_(10149971_?)del deletion Chuvash polycythemia [RCV000558078] Chr3:10064723..10149971 [GRCh38]
Chr3:3p25.3		 pathogenic
NC_000003.12:g.(?_10064723)_(10146642_?)del deletion Fanconi anemia [RCV000631040] Chr3:10064723..10146642 [GRCh38]
Chr3:10106407..10188326 [GRCh37]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
NC_000003.11:g.(?_10106403)_(10191659_?)dup duplication Chuvash polycythemia [RCV000708325] Chr3:10064719..10149975 [GRCh38]
Chr3:10106403..10191659 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.12:g.10137102_10143357del deletion Von Hippel-Lindau syndrome [RCV001293300] Chr3:10137102..10143357 [GRCh38]
Chr3:10178786..10185041 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.12:g.10135142_10142466del deletion Von Hippel-Lindau syndrome [RCV001293298] Chr3:10135114..10142438 [GRCh38]
Chr3:10176798..10184122 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.12:g.10137026_10145481del deletion Von Hippel-Lindau syndrome [RCV001293299] Chr3:10137022..10145477 [GRCh38]
Chr3:10178706..10187161 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_018462.5(BRK1):c.119-2098C>T single nucleotide variant not provided [RCV001673279] Chr3:10123528 [GRCh38]
Chr3:10165212 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3531dup duplication not provided [RCV001684445] Chr3:10122085..10122086 [GRCh38]
Chr3:10163769..10163770 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-678A>C single nucleotide variant not provided [RCV001715728] Chr3:10124948 [GRCh38]
Chr3:10166632 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-4437G>T single nucleotide variant not provided [RCV001617367] Chr3:10121189 [GRCh38]
Chr3:10162873 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1527_119-1524del microsatellite not provided [RCV001711038] Chr3:10124095..10124098 [GRCh38]
Chr3:10165779..10165782 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3030T>C single nucleotide variant not provided [RCV001714470] Chr3:10122596 [GRCh38]
Chr3:10164280 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.*668T>C single nucleotide variant not provided [RCV001674101] Chr3:10126963 [GRCh38]
Chr3:10168647 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-3517G>A single nucleotide variant not provided [RCV001668027] Chr3:10122109 [GRCh38]
Chr3:10163793 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10128135G>T single nucleotide variant not provided [RCV001650058] Chr3:10128135 [GRCh38]
Chr3:10169819 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-1992T>C single nucleotide variant not provided [RCV001648208] Chr3:10123634 [GRCh38]
Chr3:10165318 [GRCh37]
Chr3:3p25.3		 benign
NM_018462.5(BRK1):c.119-241A>G single nucleotide variant not provided [RCV001530843] Chr3:10125385 [GRCh38]
Chr3:10167069 [GRCh37]
Chr3:3p25.3		 benign
NC_000003.12:g.10133996_10152871del deletion Von Hippel-Lindau syndrome [RCV003318488] Chr3:10133996..10152871 [GRCh38]
Chr3:3p25.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC107303339 COSMIC
GTEx LOC107303339 GTEx
Human Proteome Map LOC107303339 Human Proteome Map
NCBI Gene LOC107303339 ENTREZGENE