LOC130056718 (ATAC-STARR-seq lymphoblastoid active region 9160) - Rat Genome Database

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Gene: LOC130056718 (ATAC-STARR-seq lymphoblastoid active region 9160) Homo sapiens
Analyze
Symbol: LOC130056718
Name: ATAC-STARR-seq lymphoblastoid active region 9160
RGD ID: 329816608
Description: This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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
GRCh381522,895,752 - 22,895,861 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01520,567,606 - 20,567,715 (+)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
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050334] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
Single allele duplication 15q11q13 microduplication syndrome [RCV002286327] Chr15:22820239..23039543 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22786765-23048726)x1 copy number loss See cases [RCV000133983] Chr15:22786765..23048726 [GRCh38]
Chr15:22824342..23086303 [GRCh37]
Chr15:20375706..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1 copy number loss See cases [RCV000134106] Chr15:22655583..23107431 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3 copy number gain See cases [RCV000134105] Chr15:22655583..23066575 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1 copy number loss See cases [RCV000134444] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1 copy number loss See cases [RCV000134448] Chr15:22655641..23012211 [GRCh38]
Chr15:22860857..23217455 [GRCh37]
Chr15:20412298..20768896 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133960] Chr15:22786765..23066575 [GRCh38]
Chr15:22765628..23086303 [GRCh37]
Chr15:20316992..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133774] Chr15:22612582..23066575 [GRCh38]
Chr15:22765628..23260514 [GRCh37]
Chr15:20316992..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133685] Chr15:22612582..23066575 [GRCh38]
Chr15:22698522..23260514 [GRCh37]
Chr15:20249886..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000050743] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050342] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1 copy number loss See cases [RCV000134076] Chr15:22469457..23066575 [GRCh38]
Chr15:22765637..23403639 [GRCh37]
Chr15:20317001..20955080 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 copy number gain See cases [RCV000134443] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:20412298..20851679 [NCBI36]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3 copy number gain See cases [RCV000133722] Chr15:22655582..23107440 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133898] Chr15:22786765..23066575 [GRCh38]
Chr15:22698522..23086303 [GRCh37]
Chr15:20249886..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000136150] Chr15:22726969..23066575 [GRCh38]
Chr15:22698522..23146132 [GRCh37]
Chr15:20249886..20697573 [NCBI36]
Chr15:15q11.2		 benign
NC_000015.10:g.(?_22786657)_(23032029_?)del deletion Hereditary spastic paraplegia 6 [RCV000707782]|not provided [RCV001861923] Chr15:22786657..23032029 [GRCh38]
Chr15:22841039..23086411 [GRCh37]
Chr15:15q11.2		 uncertain significance|no classifications from unflagged records
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1 copy number loss See cases [RCV000135507] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3 copy number gain See cases [RCV000135477] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1 copy number loss See cases [RCV000051247] Chr15:22632213..23066575 [GRCh38]
Chr15:22779922..23240883 [GRCh37]
Chr15:20331286..20792324 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1 copy number loss See cases [RCV000051250] Chr15:22484473..23066575 [GRCh38]
Chr15:22779922..23388623 [GRCh37]
Chr15:20331286..20940064 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787833-23066575)x3 copy number gain See cases [RCV000135982] Chr15:22787833..23066575 [GRCh38]
Chr15:22765637..23085235 [GRCh37]
Chr15:20317001..20636676 [NCBI36]
Chr15:15q11.2		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3 copy number gain See cases [RCV000136131] Chr15:22358243..23006180 [GRCh38]
Chr15:22866888..23699760 [GRCh37]
Chr15:20418329..21250853 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1 copy number loss See cases [RCV000051248] Chr15:22750921..23066575 [GRCh38]
Chr15:22779922..23122189 [GRCh37]
Chr15:20331286..20673630 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1 copy number loss See cases [RCV000136105] Chr15:22726999..23057280 [GRCh38]
Chr15:22815788..23146102 [GRCh37]
Chr15:20367152..20697543 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787972-23107440)x1 copy number loss See cases [RCV000135522] Chr15:22787972..23107440 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x3 copy number gain See cases [RCV000051330] Chr15:22787972..23066575 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1 copy number loss See cases [RCV000051249] Chr15:22559691..23066575 [GRCh38]
Chr15:22779922..23313405 [GRCh37]
Chr15:20331286..20864846 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000051238] Chr15:22655582..23066575 [GRCh38]
Chr15:22756505..23217514 [GRCh37]
Chr15:20307869..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1 copy number loss See cases [RCV000051245] Chr15:22775968..23066575 [GRCh38]
Chr15:22765628..23097100 [GRCh37]
Chr15:20316992..20648541 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1 copy number loss See cases [RCV000051246] Chr15:22358243..23066575 [GRCh38]
Chr15:22765628..23739406 [GRCh37]
Chr15:20316992..21290499 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3 copy number gain See cases [RCV000134799] Chr15:22572783..23107431 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3 copy number gain See cases [RCV000137201] Chr15:22655582..23057491 [GRCh38]
Chr15:22815577..23217514 [GRCh37]
Chr15:20366941..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1 copy number loss See cases [RCV000142918] Chr15:22693148..23066575 [GRCh38]
Chr15:22765628..23179948 [GRCh37]
Chr15:20316992..20731389 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22781888-23066575)x1 copy number loss See cases [RCV000139124] Chr15:22781888..23066575 [GRCh38]
Chr15:22765628..23091180 [GRCh37]
Chr15:20316992..20642621 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1 copy number loss See cases [RCV000143282] Chr15:22590297..23102647 [GRCh38]
Chr15:22770421..23282799 [GRCh37]
Chr15:20321785..20834240 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1 copy number loss See cases [RCV000143040] Chr15:22612562..23066575 [GRCh38]
Chr15:22765637..23260534 [GRCh37]
Chr15:20317001..20811975 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x1 copy number loss See cases [RCV000136747] Chr15:22787972..23066575 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1 copy number loss See cases [RCV000143552] Chr15:22581937..23102647 [GRCh38]
Chr15:22770421..23291159 [GRCh37]
Chr15:20321785..20842600 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22790740-23102647)x1 copy number loss See cases [RCV000143689] Chr15:22790740..23102647 [GRCh38]
Chr15:22770421..23082328 [GRCh37]
Chr15:20321785..20633769 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1 copy number loss See cases [RCV000143598] Chr15:22358243..23102647 [GRCh38]
Chr15:22770421..23682708 [GRCh37]
Chr15:20321785..21234149 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1 copy number loss See cases [RCV000139932] Chr15:22658112..23102647 [GRCh38]
Chr15:22770421..23214984 [GRCh37]
Chr15:20321785..20766425 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 copy number loss Angelman syndrome [RCV003327724] Chr15:20966971..25963714 [GRCh38]
Chr15:15q11.2-12		 pathogenic
GRCh38/hg38 15q11.2(chr15:22790247-23066575)x1 copy number loss See cases [RCV000141457] Chr15:22790247..23066575 [GRCh38]
Chr15:22765628..23082821 [GRCh37]
Chr15:20316992..20634262 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1 copy number loss See cases [RCV000142160] Chr15:22595661..23102647 [GRCh38]
Chr15:22770421..23277435 [GRCh37]
Chr15:20321785..20828876 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1 copy number loss See cases [RCV000142122] Chr15:22582277..23102647 [GRCh38]
Chr15:22770421..23290819 [GRCh37]
Chr15:20321785..20842260 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1 copy number loss See cases [RCV000138439] Chr15:22623415..23066575 [GRCh38]
Chr15:22765628..23249681 [GRCh37]
Chr15:20316992..20801122 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22796648-23066575)x1 copy number loss See cases [RCV000141501] Chr15:22796648..23066575 [GRCh38]
Chr15:22765628..23076420 [GRCh37]
Chr15:20316992..20627861 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22790626-23102647)x1 copy number loss See cases [RCV000141818] Chr15:22790626..23102647 [GRCh38]
Chr15:22770421..23082442 [GRCh37]
Chr15:20321785..20633883 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1 copy number loss See cases [RCV000142110] Chr15:22590191..23102647 [GRCh38]
Chr15:22770421..23282905 [GRCh37]
Chr15:20321785..20834346 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22782794-23066575)x1 copy number loss See cases [RCV000138344] Chr15:22782794..23066575 [GRCh38]
Chr15:22765628..23090274 [GRCh37]
Chr15:20316992..20641715 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787668-23051531) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223558] Chr15:22787668..23051531 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787849-23051049) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223559] Chr15:22787849..23051049 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22781888-23030923) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223557] Chr15:22781888..23030923 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autism [RCV000754149] Chr15:22570470..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787972-23088545)x3 copy number gain See cases [RCV000142684] Chr15:22787972..23088545 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 benign
NC_000015.10:g.(?_22770232)_(23126124_?)del deletion Autism [RCV000754154] Chr15:22770232..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22673675)_(23126124_?)del deletion Schizophrenia [RCV000754151] Chr15:22673675..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1 copy number loss Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444177] Chr15:22542702..23121344 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22633497-23084434) copy number loss Autism spectrum disorder [RCV003883419] Chr15:22633497..23084434 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699) copy number gain 15q11q13 microduplication syndrome [RCV003985067] Chr15:22612582..29993699 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4 copy number gain 15q11q13 microduplication syndrome [RCV003985068] Chr15:22612582..28435882 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.22698177_(23120963_23380983)del deletion Chromosome 15q11.2 deletion syndrome [RCV003221323] Chr15:22698177..23120963 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.22723843_23122692dup duplication Neurodevelopmental disorder [RCV001839393] Chr15:22723843..23122692 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1 copy number loss See cases [RCV000134798] Chr15:22572783..23066575 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000051236] Chr15:22572809..23066575 [GRCh38]
Chr15:22669052..23300287 [GRCh37]
Chr15:20220416..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3 copy number gain See cases [RCV000143066] Chr15:22726999..23066575 [GRCh38]
Chr15:22765637..23146102 [GRCh37]
Chr15:20317001..20697543 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000050332] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 copy number loss See cases [RCV000050507] Chr15:22572809..23174546 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000133674] Chr15:22572809..23066575 [GRCh38]
Chr15:22765628..23300287 [GRCh37]
Chr15:20316992..20851728 [NCBI36]
Chr15:15q11.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1 copy number loss See cases [RCV000143718] Chr15:22591732..23102647 [GRCh38]
Chr15:22770421..23281364 [GRCh37]
Chr15:20321785..20832805 [NCBI36]
Chr15:15q11.2		 likely benign|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148283] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148277] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autism [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22673143)_(23226874_?)del deletion Autism [RCV000754150] Chr15:22673143..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22751662)_(23126124_?)del deletion Autism [RCV000754153] Chr15:22751662..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130056718 COSMIC
GTEx LOC130056718 GTEx
Human Proteome Map LOC130056718 Human Proteome Map
NCBI Gene LOC130056718 ENTREZGENE