LOC112272576 (Sharpr-MPRA regulatory region 3977) - Rat Genome Database

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Gene: LOC112272576 (Sharpr-MPRA regulatory region 3977) Homo sapiens
Analyze
Symbol: LOC112272576
Name: Sharpr-MPRA regulatory region 3977
RGD ID: 38615832
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Mar 2018]
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
GRCh381522,776,025 - 22,776,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371523,096,749 - 23,097,043 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01520,447,867 - 20,448,161 (+)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:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000148236] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
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
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(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(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(chr15:22726969-23066575)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 15q11.2-13.1(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(chr15:22572809-23174546)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(chr15:22590191-23102647)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(chr15:22632213-23066575)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 15q11.2-13.1(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(chr15:22484473-23066575)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(chr15:22726999-23057280)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 [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 15q11.2-13.1(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 15q11.1-13.2(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(chr15:22595661-23102647)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(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148277] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
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(chr15:22655582-23066575)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(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 15q11.2-13.1(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(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(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(chr15:22572858-23012211)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(chr15:22590297-23102647)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 15q11.2-13.1(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
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(chr15:22658112-23102647)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(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(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 [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
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
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
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(chr15:22726969-23066575)x3 copy number gain See cases [RCV000136150] Chr15:22726969..23066575 [GRCh38]
Chr15:22698522..23146132 [GRCh37]
Chr15:20249886..20697573 [NCBI36]
Chr15:15q11.2		 benign
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 15q11.2(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
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(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(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)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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(chr15:22612582-23066575)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(chr15:22655582-23174546)x3 copy number gain See cases [RCV000148278] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
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(chr15:22726999-23066575)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 15q11.2-13.1(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 15q11.2-13.1(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 15q11.2-13.1(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(chr15:22358243-28481444)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(chr15:22572658-23066575)x4 copy number gain See cases [RCV000051311] Chr15:22572658..23066575 [GRCh38]
Chr15:22698322..23300438 [GRCh37]
Chr15:20249686..20851879 [NCBI36]
Chr15:15q11.2		 uncertain significance
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(chr15:22655583-23066575)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(chr15:22655582-23057491)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(chr15:22572809-23066575)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(chr15:22655582-23066575)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(chr15:22358243-23066575)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(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 15q11.2-13.1(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 15q11.2-13.1(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 15q11.1-13.1(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(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 15q11.2-13.1(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 15q11.1-13.2(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 15q11.2-13.2(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
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autism [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22770232)_(23126124_?)del deletion Autism [RCV000754154] Chr15:22770232..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
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 15q11.1-13.1(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
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autism [RCV000754149] Chr15:22570470..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.(?_22673675)_(23126124_?)del deletion Schizophrenia [RCV000754151] Chr15:22673675..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
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 15q11.2-13.1(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 15q11.1-13.1(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
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_22751662)_(23126124_?)del deletion Autism [RCV000754153] Chr15:22751662..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
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 15q11.2-13.1(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
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 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
NC_000015.10:g.22723843_23122692dup duplication Neurodevelopmental disorder [RCV001839393] Chr15:22723843..23122692 [GRCh38]
Chr15:15q11.2		 uncertain significance
NC_000015.10:g.22698177_(23120963_23380983)del deletion Chromosome 15q11.2 deletion syndrome [RCV003221323] Chr15:22698177..23120963 [GRCh38]
Chr15:15q11.2		 pathogenic
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(chr15:22542702-23121344)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(chr15:22776147-23076393) copy number loss 15q11.2 BP1-BP2 recurrent deletion [RCV004555165] Chr15:22776147..23076393 [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
GRCh38/hg38 15q11.2(chr15:22583760-23123885) copy number loss Chromosome 15q11.2 deletion syndrome [RCV004555175] Chr15:22583760..23123885 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22600363-23120182) copy number loss Chromosome 15q11.2 deletion syndrome [RCV004555204] Chr15:22600363..23120182 [GRCh38]
Chr15:15q11.2		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112272576 COSMIC
GTEx LOC112272576 GTEx
Human Proteome Map LOC112272576 Human Proteome Map
NCBI Gene LOC112272576 ENTREZGENE