LOC130056726 (ATAC-STARR-seq lymphoblastoid silent region 6267) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: LOC130056726 (ATAC-STARR-seq lymphoblastoid silent region 6267) Homo sapiens
Analyze
Symbol: LOC130056726
Name: ATAC-STARR-seq lymphoblastoid silent region 6267
RGD ID: 329823990
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress 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
GRCh381531,392,497 - 31,392,546 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01529,186,629 - 29,186,678 (+)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 15q13.2-13.3(chr15:30361674-32607357)x1 copy number loss See cases [RCV000050900] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000050899] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000050442] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3 copy number gain See cases [RCV000135330] Chr15:30797731..32150818 [GRCh38]
Chr15:31089934..32443019 [GRCh37]
Chr15:28877226..30230311 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1 copy number loss See cases [RCV000135446] Chr15:30750713..32607357 [GRCh38]
Chr15:31042916..32899558 [GRCh37]
Chr15:28830208..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1 copy number loss See cases [RCV000050511] Chr15:30438310..32217725 [GRCh38]
Chr15:30730513..32509926 [GRCh37]
Chr15:28517805..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3 copy number gain See cases [RCV000133742] Chr15:28961114..32343758 [GRCh38]
Chr15:29253317..32635959 [GRCh37]
Chr15:27040609..30423251 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
Single allele deletion Chromosome 15q13.3 microdeletion syndrome [RCV002280355] Chr15:30626003..32111997 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000050441] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3 copy number gain See cases [RCV000051336] Chr15:30361674..32343758 [GRCh38]
Chr15:30653877..32635959 [GRCh37]
Chr15:28441169..30423251 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3 copy number gain See cases [RCV000135974] Chr15:30361656..32150923 [GRCh38]
Chr15:30653859..32443124 [GRCh37]
Chr15:28441151..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1 copy number loss See cases [RCV000051585] Chr15:30361674..32630901 [GRCh38]
Chr15:30653877..32923102 [GRCh37]
Chr15:28441169..30710394 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1 copy number loss See cases [RCV000136622] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1 copy number loss See cases [RCV000050609] Chr15:30662523..32607357 [GRCh38]
Chr15:30954726..32899558 [GRCh37]
Chr15:28742018..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1 copy number loss See cases [RCV000050564] Chr15:28314197..32343758 [GRCh38]
Chr15:28579796..32635959 [GRCh37]
Chr15:26232938..30423251 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000050375] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 copy number loss See cases [RCV000050376] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000050599] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1 copy number loss See cases [RCV000134823] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3 copy number gain See cases [RCV000051351] Chr15:30640878..32222779 [GRCh38]
Chr15:30933081..32514980 [GRCh37]
Chr15:28720373..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3 copy number gain See cases [RCV000135791] Chr15:30361674..31572487 [GRCh38]
Chr15:30653877..31864690 [GRCh37]
Chr15:28441169..29651982 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3 copy number gain See cases [RCV000135725] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3 copy number gain See cases [RCV000051332] Chr15:28918473..32606466 [GRCh38]
Chr15:29210676..32898667 [GRCh37]
Chr15:26997968..30685959 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3 copy number gain See cases [RCV000135452] Chr15:30438310..32607357 [GRCh38]
Chr15:30730513..32899558 [GRCh37]
Chr15:28517805..30686850 [NCBI36]
Chr15:15q13.2-13.3		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3 copy number gain See cases [RCV000136965] Chr15:30291263..32217725 [GRCh38]
Chr15:30583466..32509926 [GRCh37]
Chr15:28370758..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3 copy number gain See cases [RCV000142809] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1 copy number loss See cases [RCV000137266] Chr15:30361674..32621998 [GRCh38]
Chr15:30653877..32914199 [GRCh37]
Chr15:28441169..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 copy number loss See cases [RCV000143262] Chr15:30629714..32275124 [GRCh38]
Chr15:30921917..32567325 [GRCh37]
Chr15:28709209..30354617 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3 copy number gain See cases [RCV000139177] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1 copy number loss See cases [RCV000139178] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3 copy number gain See cases [RCV000137254] Chr15:30361674..32414682 [GRCh38]
Chr15:30653877..32706883 [GRCh37]
Chr15:28441169..30494175 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1 copy number loss See cases [RCV000139417] Chr15:28744504..32222779 [GRCh38]
Chr15:28989650..32514980 [GRCh37]
Chr15:26788691..30302272 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1 copy number loss See cases [RCV000143747] Chr15:30781465..32154629 [GRCh38]
Chr15:31073668..32446830 [GRCh37]
Chr15:28860960..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1 copy number loss See cases [RCV000139322] Chr15:30662521..32150923 [GRCh38]
Chr15:30954724..32443124 [GRCh37]
Chr15:28742016..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3 copy number gain See cases [RCV000143499] Chr15:30781466..32154629 [GRCh38]
Chr15:31073669..32446830 [GRCh37]
Chr15:28860961..30234122 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3 copy number gain See cases [RCV000137535] Chr15:30629714..32326182 [GRCh38]
Chr15:30921917..32618383 [GRCh37]
Chr15:28709209..30405675 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000148065] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1 copy number loss See cases [RCV000139327] Chr15:30662521..32569411 [GRCh38]
Chr15:30954724..32861612 [GRCh37]
Chr15:28742016..30648904 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3 copy number gain See cases [RCV000137855] Chr15:30527262..32621998 [GRCh38]
Chr15:30819465..32914199 [GRCh37]
Chr15:28606757..30701491 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1 copy number loss See cases [RCV000141147] Chr15:30797731..32170441 [GRCh38]
Chr15:31089934..32462642 [GRCh37]
Chr15:28877226..30249934 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1 copy number loss See cases [RCV000141477] Chr15:30217122..32217725 [GRCh38]
Chr15:30509325..32509926 [GRCh37]
Chr15:28296617..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1 copy number loss See cases [RCV000142300] Chr15:30781532..32154629 [GRCh38]
Chr15:31073735..32446830 [GRCh37]
Chr15:28861027..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3 copy number gain See cases [RCV000142144] Chr15:30621371..32151912 [GRCh38]
Chr15:30913574..32444113 [GRCh37]
Chr15:28700866..30231405 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1 copy number loss See cases [RCV000052412] Chr15:28918473..32149250 [GRCh38]
Chr15:29210676..32441451 [GRCh37]
Chr15:26997968..30228743 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3 copy number gain See cases [RCV000142184] Chr15:30621371..32147323 [GRCh38]
Chr15:30913574..32439524 [GRCh37]
Chr15:28700866..30226816 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1 copy number loss See cases [RCV000141482] Chr15:30217122..32607357 [GRCh38]
Chr15:30509325..32899558 [GRCh37]
Chr15:28296617..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3 copy number gain See cases [RCV000138283] Chr15:28744504..32275124 [GRCh38]
Chr15:28989650..32567325 [GRCh37]
Chr15:26788691..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000148165] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1 copy number loss See cases [RCV000052481] Chr15:30822844..32606466 [GRCh38]
Chr15:31115047..32898667 [GRCh37]
Chr15:28902339..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30325774)_(32194551_?)del deletion Schizophrenia [RCV000754161] Chr15:30325774..32194551 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754164] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 copy number loss See cases [RCV000052433] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 copy number loss See cases [RCV000052426] Chr15:30109224..32606466 [GRCh38]
Chr15:30401427..32898667 [GRCh37]
Chr15:28188719..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743) copy number gain Anomalous pulmonary venous return [RCV003223577] Chr15:30866083..32146743 [GRCh38]
Chr15:15q13.2-13.3		 uncertain significance
NC_000015.10:g.(?_30568981)_(32151126_?)del deletion Autism [RCV000754163] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1 copy number loss See cases [RCV000052431] Chr15:30361674..32326182 [GRCh38]
Chr15:30653877..32618383 [GRCh37]
Chr15:28441169..30405675 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1 copy number loss See cases [RCV000052458] Chr15:30634533..32121422 [GRCh38]
Chr15:30926736..32413623 [GRCh37]
Chr15:28714028..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1 copy number loss See cases [RCV000052465] Chr15:30822844..32149250 [GRCh38]
Chr15:31115047..32441451 [GRCh37]
Chr15:28902339..30228743 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3 copy number gain See cases [RCV000142792] Chr15:30629714..32569425 [GRCh38]
Chr15:30921917..32861626 [GRCh37]
Chr15:28709209..30648918 [NCBI36]
Chr15:15q13.2-13.3		 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
Single allele duplication Schizophrenia [RCV000754162] Chr15:30506022..32161746 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3 copy number gain See cases [RCV000051334] Chr15:30109224..32149250 [GRCh38]
Chr15:30401427..32441451 [GRCh37]
Chr15:28188719..30228743 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3 copy number gain See cases [RCV000134822] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1 copy number loss See cases [RCV000142808] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000148066] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000148196] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3 copy number gain See cases [RCV000141654] Chr15:30094195..32151843 [GRCh38]
Chr15:30386398..32444044 [GRCh37]
Chr15:28173690..30231336 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3 copy number gain See cases [RCV000138268] Chr15:28730988..32275124 [GRCh38]
Chr15:28976134..32567325 [GRCh37]
Chr15:26775175..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
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 15q13.2-13.3(chr15:30527262-32222779)x1 copy number loss See cases [RCV000140690] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1 copy number loss See cases [RCV000138247] Chr15:30629714..32621998 [GRCh38]
Chr15:30921917..32914199 [GRCh37]
Chr15:28709209..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000148179] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3 copy number gain See cases [RCV000140689] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1 copy number loss See cases [RCV000052452] Chr15:30527262..32343758 [GRCh38]
Chr15:30819465..32635959 [GRCh37]
Chr15:28606757..30423251 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1 copy number loss See cases [RCV000052453] Chr15:30592358..32121422 [GRCh38]
Chr15:30884561..32413623 [GRCh37]
Chr15:28671853..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1 copy number loss See cases [RCV000052455] Chr15:30614351..32606466 [GRCh38]
Chr15:30906554..32898667 [GRCh37]
Chr15:28693846..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1 copy number loss See cases [RCV000052464] Chr15:30750713..32217725 [GRCh38]
Chr15:31042916..32509926 [GRCh37]
Chr15:28830208..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3 copy number gain See cases [RCV000142669] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
NC_000015.10:g.(?_30568981)_(32318632_?)del deletion Autism [RCV000754165] Chr15:30568981..32318632 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130056726 COSMIC
GTEx LOC130056726 GTEx
Human Proteome Map LOC130056726 Human Proteome Map
NCBI Gene LOC130056726 ENTREZGENE