SNORD115-7 (small nucleolar RNA, C/D box 115-7) - Rat Genome Database

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Gene: SNORD115-7 (small nucleolar RNA, C/D box 115-7) Homo sapiens
Analyze
Symbol: SNORD115-7
Name: small nucleolar RNA, C/D box 115-7
RGD ID: 1604086
HGNC Page HGNC:33026
Description: Predicted to be involved in RNA processing. Predicted to be located in nucleolus.
Type: snorna
RefSeq Status: VALIDATED
Previously known as: HBII-52-7
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381525,182,385 - 25,182,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1525,182,385 - 25,182,466 (+)EnsemblGRCh38hg38GRCh38
GRCh371525,427,532 - 25,427,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361522,978,625 - 22,978,706 (+)NCBINCBI36Build 36hg18NCBI36
Celera153,589,544 - 3,589,625 (+)NCBICelera
Cytogenetic Map15q11.2NCBI
CHM1_11525,377,046 - 25,377,127 (+)NCBICHM1_1
T2T-CHM13v2.01522,919,055 - 22,919,136 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleolus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11106375   PMID:11726556   PMID:12045206   PMID:15565282   PMID:15939761   PMID:16357227   PMID:19446021  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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)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 15q11.2-13.1(chr15:23319714-30361733)x3 copy number gain See cases [RCV000053224] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053230] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 copy number loss See cases [RCV000134719] Chr15:23462288..28694922 [GRCh38]
Chr15:23707435..28940068 [GRCh37]
Chr15:21258528..26739109 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 copy number loss See cases [RCV000134437] Chr15:23439508..28154050 [GRCh38]
Chr15:23684655..28399196 [GRCh37]
Chr15:21236096..26072791 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 copy number loss See cases [RCV000134053] Chr15:23462288..28275170 [GRCh38]
Chr15:23707435..28520316 [GRCh37]
Chr15:21258528..26193911 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 copy number loss See cases [RCV000134115] Chr15:23462288..28314291 [GRCh38]
Chr15:23707435..28557186 [GRCh37]
Chr15:21258528..26233032 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 copy number gain See cases [RCV000134062] Chr15:23319714..28275170 [GRCh38]
Chr15:22765637..28520316 [GRCh37]
Chr15:20317001..26193911 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 copy number loss See cases [RCV000134074] Chr15:23319714..28347620 [GRCh38]
Chr15:23353638..28592766 [GRCh37]
Chr15:20905079..26266361 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 15q11.2-13.1(chr15:23328044-28154050)x1 copy number loss See cases [RCV000135313] Chr15:23328044..28154050 [GRCh38]
Chr15:22860857..28399196 [GRCh37]
Chr15:20412298..26072791 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 copy number loss See cases [RCV000134776] Chr15:23410917..28275170 [GRCh38]
Chr15:23656064..28520316 [GRCh37]
Chr15:21207505..26193911 [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 15q11.2-13.1(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 15q11.2-13.1(chr15:23319714-30361733)x4 copy number gain See cases [RCV000135743] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [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 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000135745] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000135860] Chr15:23319714..28314256 [GRCh38]
Chr15:22698522..28557186 [GRCh37]
Chr15:20249886..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 copy number gain See cases [RCV000135505] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000135506] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 copy number loss See cases [RCV000135892] Chr15:23462105..28290061 [GRCh38]
Chr15:23707252..28535207 [GRCh37]
Chr15:21258345..26208802 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 copy number gain See cases [RCV000135973] Chr15:23319714..30073876 [GRCh38]
Chr15:22765637..30366079 [GRCh37]
Chr15:20317001..28153371 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
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 15q11.2-13.1(chr15:23462305-28694952)x3 copy number gain See cases [RCV000137064] Chr15:23462305..28694952 [GRCh38]
Chr15:23707452..28940098 [GRCh37]
Chr15:21258545..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 copy number loss See cases [RCV000136950] Chr15:23462305..28314256 [GRCh38]
Chr15:23707452..28557186 [GRCh37]
Chr15:21258545..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 copy number gain See cases [RCV000137099] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28557186 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 copy number gain See cases [RCV000137100] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [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 15q11.2-13.1(chr15:23319714-28280314)x1 copy number loss See cases [RCV000136811] Chr15:23319714..28280314 [GRCh38]
Chr15:22784523..28525460 [GRCh37]
Chr15:20335887..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 copy number loss See cases [RCV000136734] Chr15:23454554..28280314 [GRCh38]
Chr15:23699701..28525460 [GRCh37]
Chr15:21250794..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 copy number gain See cases [RCV000136752] Chr15:23411789..28280314 [GRCh38]
Chr15:23656936..28525460 [GRCh37]
Chr15:21208377..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 copy number gain See cases [RCV000137578] Chr15:23319714..30361733 [GRCh38]
Chr15:22765628..30653936 [GRCh37]
Chr15:20316992..28441228 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000137630] Chr15:23319714..30073921 [GRCh38]
Chr15:22765628..30366124 [GRCh37]
Chr15:20316992..28153416 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 copy number loss See cases [RCV000137394] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 copy number gain See cases [RCV000137393] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 copy number loss See cases [RCV000137270] Chr15:23523934..28280314 [GRCh38]
Chr15:23769081..28525460 [GRCh37]
Chr15:21320174..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely pathogenic
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(chr15:23422864-28314256)x1 copy number loss See cases [RCV000137953] Chr15:23422864..28314256 [GRCh38]
Chr15:23668011..28557186 [GRCh37]
Chr15:21219452..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|conflicting data from submitters
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 15q11.2-12(chr15:23319714-25980547)x3 copy number gain See cases [RCV000137911] Chr15:23319714..25980547 [GRCh38]
Chr15:23179889..26225694 [GRCh37]
Chr15:20731330..23776787 [NCBI36]
Chr15:15q11.2-12		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1		 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 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(chr15:23319714-32384654)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 15q11.2-13.1(chr15:23410917-28446301)x1 copy number loss See cases [RCV000139335] Chr15:23410917..28446301 [GRCh38]
Chr15:23656064..28691447 [GRCh37]
Chr15:21207505..26365042 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 copy number gain See cases [RCV000139162] Chr15:23319714..28446301 [GRCh38]
Chr15:23300254..28691447 [GRCh37]
Chr15:20851695..26365042 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 copy number gain See cases [RCV000139948] Chr15:23328044..28638603 [GRCh38]
Chr15:22652060..28883749 [GRCh37]
Chr15:20203424..26682790 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 copy number loss See cases [RCV000139980] Chr15:23370621..28289312 [GRCh38]
Chr15:23615768..28534458 [GRCh37]
Chr15:21167209..26208053 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 copy number loss See cases [RCV000139986] Chr15:23375044..28300209 [GRCh38]
Chr15:23620191..28545355 [GRCh37]
Chr15:21171632..26218950 [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 15q11.2-13.1(chr15:23328044-28578576)x1 copy number loss See cases [RCV000140454] Chr15:23328044..28578576 [GRCh38]
Chr15:22770421..28823722 [GRCh37]
Chr15:20321785..26622763 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 copy number loss See cases [RCV000139647] Chr15:23999707..28314256 [GRCh38]
Chr15:24244854..28557186 [GRCh37]
Chr15:21795947..26232997 [NCBI36]
Chr15:15q11.2-13.1		 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 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 15q11.1-13.3(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 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000140712] Chr15:23319714..28446314 [GRCh38]
Chr15:22765628..28691460 [GRCh37]
Chr15:20316992..26365055 [NCBI36]
Chr15:15q11.2-13.1		 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(chr15:23328044-28300209)x1 copy number loss See cases [RCV000140888] Chr15:23328044..28300209 [GRCh38]
Chr15:23286571..28545355 [GRCh37]
Chr15:20838012..26218950 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 15q11.2-13.1(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 copy number loss See cases [RCV000141946] Chr15:23370621..28414765 [GRCh38]
Chr15:23615768..28659911 [GRCh37]
Chr15:21167209..26333506 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 copy number loss See cases [RCV000141728] Chr15:23370622..28414892 [GRCh38]
Chr15:23615769..28660038 [GRCh37]
Chr15:21167210..26333633 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 copy number loss See cases [RCV000141730] Chr15:23328044..28836775 [GRCh38]
Chr15:22770421..29081921 [GRCh37]
Chr15:20321785..26880962 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 copy number loss See cases [RCV000142069] Chr15:23328044..28315123 [GRCh38]
Chr15:22770421..28560269 [GRCh37]
Chr15:20321785..26233864 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 copy number loss See cases [RCV000142103] Chr15:23328044..28464569 [GRCh38]
Chr15:22770421..28709715 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 copy number loss See cases [RCV000142233] Chr15:23328044..28315951 [GRCh38]
Chr15:23290786..28561097 [GRCh37]
Chr15:20842227..26234692 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 copy number loss See cases [RCV000142234] Chr15:23370621..28578576 [GRCh38]
Chr15:23615768..28823722 [GRCh37]
Chr15:21167209..26622763 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 copy number loss See cases [RCV000142170] Chr15:23375044..28300358 [GRCh38]
Chr15:23620191..28545504 [GRCh37]
Chr15:21171632..26219099 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 copy number loss See cases [RCV000142132] Chr15:23328044..28300358 [GRCh38]
Chr15:23286571..28545504 [GRCh37]
Chr15:20838012..26219099 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 copy number loss See cases [RCV000142046] Chr15:23328044..30077815 [GRCh38]
Chr15:23276605..30370018 [GRCh37]
Chr15:20828046..28157310 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 copy number gain See cases [RCV000142854] Chr15:23398620..28280314 [GRCh38]
Chr15:23643767..28525460 [GRCh37]
Chr15:21195208..26199055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 copy number gain See cases [RCV000142791] Chr15:23319714..30527306 [GRCh38]
Chr15:22765628..30819509 [GRCh37]
Chr15:20316992..28606801 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000142766] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1		 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 15q11.2-13.1(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 15q11.2-13.2(chr15:23328044-30094350)x4 copy number gain See cases [RCV000143379] Chr15:23328044..30094350 [GRCh38]
Chr15:22770421..30386553 [GRCh37]
Chr15:20321785..28173845 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 copy number loss See cases [RCV000143443] Chr15:23370622..28389912 [GRCh38]
Chr15:23615769..28635058 [GRCh37]
Chr15:21167210..26308653 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 copy number loss See cases [RCV000143183] Chr15:23422864..28446314 [GRCh38]
Chr15:23668011..28691460 [GRCh37]
Chr15:21219452..26365055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 copy number gain See cases [RCV000143291] Chr15:23328044..28683584 [GRCh38]
Chr15:22770421..28928730 [GRCh37]
Chr15:20321785..26727771 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 copy number loss See cases [RCV000143185] Chr15:23422864..28460005 [GRCh38]
Chr15:23668011..28801348 [GRCh37]
Chr15:21219452..26600389 [NCBI36]
Chr15:15q11.2-13.1		 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 15q11.2-13.2(chr15:23328044-30023809)x1 copy number loss See cases [RCV000143226] Chr15:23328044..30023809 [GRCh38]
Chr15:22770422..30316012 [GRCh37]
Chr15:20321786..28103304 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-12(chr15:24051424-27222420)x1 copy number loss See cases [RCV000143716] Chr15:24051424..27222420 [GRCh38]
Chr15:24296571..27467567 [GRCh37]
Chr15:21847664..25050313 [NCBI36]
Chr15:15q11.2-12		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 copy number loss See cases [RCV000143702] Chr15:23328044..28294829 [GRCh38]
Chr15:22770421..28539975 [GRCh37]
Chr15:20321785..26213570 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 copy number loss See cases [RCV000143744] Chr15:23370622..28300209 [GRCh38]
Chr15:23615769..28545355 [GRCh37]
Chr15:21167210..26218950 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] 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 [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(chr15:23411789-28275167)x3 copy number gain See cases [RCV000148062] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 copy number gain See cases [RCV000143666] Chr15:23444168..28277347 [GRCh38]
Chr15:23689315..28522493 [GRCh37]
Chr15:21240408..26196088 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 15q11.2-13.1(chr15:23328044-28713633)x3 copy number gain See cases [RCV000143479] Chr15:23328044..28713633 [GRCh38]
Chr15:22770421..28958779 [GRCh37]
Chr15:20321785..26757820 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 copy number loss See cases [RCV000143483] Chr15:23328044..28478308 [GRCh38]
Chr15:22770421..28723454 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000148194] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000148195] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000148164] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 copy number gain See cases [RCV000051813] Chr15:23319714..28681287 [GRCh38]
Chr15:23510051..28926433 [GRCh37]
Chr15:21061492..26725474 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 copy number gain See cases [RCV000051814] Chr15:23320410..28460005 [GRCh38]
Chr15:23565551..28812483 [GRCh37]
Chr15:21116992..26611524 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 copy number loss See cases [RCV000050850] Chr15:23411789..28314256 [GRCh38]
Chr15:23656936..28557186 [GRCh37]
Chr15:21208377..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000051053] Chr15:23319714..28314256 [GRCh38]
Chr15:23300238..28557186 [GRCh37]
Chr15:20851679..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000050742] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
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 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(chr15:23337069-28272443)x1 copy number loss See cases [RCV000052372] Chr15:23337069..28272443 [GRCh38]
Chr15:23582216..28517589 [GRCh37]
Chr15:21133657..26191184 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 copy number loss See cases [RCV000052374] Chr15:23375083..28197267 [GRCh38]
Chr15:23620230..28442413 [GRCh37]
Chr15:21171671..26116008 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 copy number loss See cases [RCV000052376] Chr15:23375083..28272443 [GRCh38]
Chr15:23620230..28517589 [GRCh37]
Chr15:21171671..26191184 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 copy number loss See cases [RCV000052380] Chr15:23398620..28446314 [GRCh38]
Chr15:23643767..28691460 [GRCh37]
Chr15:21195208..26365055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] Chr15:23411789..28446314 [GRCh38]
Chr15:23656936..28691460 [GRCh37]
Chr15:21208377..26365055 [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 15q11.2-13.1(chr15:23398620-28190742)x3 copy number gain See cases [RCV000052378] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 copy number loss See cases [RCV000052379] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [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 15q11.2-13.1(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 15q11.2-13.1(chr15:23411589-28275308)x1 copy number loss See cases [RCV000052381] Chr15:23411589..28275308 [GRCh38]
Chr15:23656736..28520454 [GRCh37]
Chr15:21208177..26194049 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 copy number gain See cases [RCV000051816] Chr15:23411589..28446455 [GRCh38]
Chr15:23656736..28691601 [GRCh37]
Chr15:21208177..26365196 [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 15q11.2-13.1(chr15:23411789-28281294)x3 copy number gain See cases [RCV000051818] Chr15:23411789..28281294 [GRCh38]
Chr15:23656936..28526440 [GRCh37]
Chr15:21208377..26200035 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 copy number gain See cases [RCV000052349] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 copy number loss See cases [RCV000052350] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] Chr15:24780911..29668996 [GRCh38]
Chr15:25026058..29961200 [GRCh37]
Chr15:22577151..27748492 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 copy number loss See cases [RCV000052353] Chr15:23319714..30109283 [GRCh38]
Chr15:22669052..30401486 [GRCh37]
Chr15:20220416..28188778 [NCBI36]
Chr15:15q11.2-13.2		 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
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 copy number loss See cases [RCV000052355] Chr15:23319714..28275308 [GRCh38]
Chr15:22698322..28520454 [GRCh37]
Chr15:20249686..26194049 [NCBI36]
Chr15:15q11.2-13.1		 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 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000052356] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [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 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000052357] Chr15:23319714..28275167 [GRCh38]
Chr15:22698522..28520313 [GRCh37]
Chr15:20249886..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 copy number loss See cases [RCV000052358] Chr15:23319714..28197267 [GRCh38]
Chr15:22779922..28442413 [GRCh37]
Chr15:20331286..26116008 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 copy number loss See cases [RCV000052402] Chr15:23450287..28446314 [GRCh38]
Chr15:23695434..28691460 [GRCh37]
Chr15:21246527..26365055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 copy number loss See cases [RCV000052403] Chr15:23462105..28275308 [GRCh38]
Chr15:23707252..28520454 [GRCh37]
Chr15:21258345..26194049 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 copy number loss See cases [RCV000052406] Chr15:23462305..28190742 [GRCh38]
Chr15:23707452..28435888 [GRCh37]
Chr15:21258545..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 copy number loss See cases [RCV000052409] Chr15:23494211..28281294 [GRCh38]
Chr15:23739358..28526440 [GRCh37]
Chr15:21290451..26200035 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 copy number loss See cases [RCV000052410] Chr15:23537429..28269468 [GRCh38]
Chr15:23782576..28514614 [GRCh37]
Chr15:21333669..26188209 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 copy number loss See cases [RCV000052411] Chr15:23537429..28275167 [GRCh38]
Chr15:23782576..28520313 [GRCh37]
Chr15:21333669..26193908 [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
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|See cases [RCV000053226] Chr15:23319714..27051075 [GRCh38]
Chr15:22698522..27296222 [GRCh37]
Chr15:20249886..24878968 [NCBI36]
Chr15:15q11.2-12		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] Chr15:23319714..30527306 [GRCh38]
Chr15:22698522..30819509 [GRCh37]
Chr15:20249886..28606801 [NCBI36]
Chr15:15q11.2-13.1		 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 15q11.2-13.1(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 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000053232] Chr15:23319714..28275167 [GRCh38]
Chr15:22765628..28520313 [GRCh37]
Chr15:20316992..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053233] Chr15:23319714..30073921 [GRCh38]
Chr15:22863854..30366124 [GRCh37]
Chr15:20415295..28153416 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 copy number gain See cases [RCV000053234] Chr15:23319714..28446455 [GRCh38]
Chr15:23300038..28691601 [GRCh37]
Chr15:20851479..26365196 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] Chr15:23319714..28275308 [GRCh38]
Chr15:23300038..28520454 [GRCh37]
Chr15:20851479..26194049 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NR_003296.1(SNORD115-4):n.-1001_8265del deletion Normal pregnancy [RCV000161763] Chr15:25175831..25185096 [GRCh38]
Chr15:25420978..25430243 [GRCh37]
Chr15:15q11.2		 not provided
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000050559] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000050733] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000050557] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_24566038)_(25781223_?)del deletion Angelman syndrome [RCV000708384] Chr15:24566038..25781223 [GRCh38]
Chr15:24811185..26026370 [GRCh37]
Chr15:15q11.2-12		 pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2		 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 15q11.2-13.3(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.(?_23319714)_(28314256_?)del deletion Angelman syndrome [RCV003885337] Chr15:23319714..28314256 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22786657)_(28299516_?)dup duplication 15q11q13 microduplication syndrome [RCV004584574] Chr15:22786657..28299516 [GRCh38]
Chr15:15q11.2-13.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:315
Count of miRNA genes:292
Interacting mature miRNAs:313
Transcripts:ENST00000365306
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
reproductive system
respiratory system
2 2 2 41 2 2 1 1 3 5 4 38 2 1

Sequence


Ensembl Acc Id: ENST00000365306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1525,182,385 - 25,182,466 (+)Ensembl
RefSeq Acc Id: NR_003299
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381525,182,385 - 25,182,466 (+)NCBI
GRCh371525,427,532 - 25,427,613 (+)RGD
Build 361522,978,625 - 22,978,706 (+)NCBI Archive
Celera153,589,544 - 3,589,625 (+)RGD
CHM1_11525,377,046 - 25,377,127 (+)NCBI
T2T-CHM13v2.01522,919,055 - 22,919,136 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC SNORD115-7 COSMIC
Ensembl Genes ENSG00000278089 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000365306 ENTREZGENE
GTEx ENSG00000278089 GTEx
HGNC ID HGNC:33026 ENTREZGENE
Human Proteome Map SNORD115-7 Human Proteome Map
NCBI Gene 100033444 ENTREZGENE
PharmGKB PA162404253 PharmGKB
RNAcentral URS0000660917 RNACentral