PWRN1 (Prader-Willi region non-protein coding RNA 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PWRN1 (Prader-Willi region non-protein coding RNA 1) Homo sapiens
Analyze
Symbol: PWRN1
Name: Prader-Willi region non-protein coding RNA 1
RGD ID: 2303844
HGNC Page HGNC:33235
Description: This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009]
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: REVIEWED
Previously known as: FLJ25418; LOHAN1; NCRNA00198
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381524,558,157 - 24,587,780 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1524,101,827 - 24,823,365 (+)EnsemblGRCh38hg38GRCh38
GRCh371524,803,304 - 24,832,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361524,803,304 - 24,832,927 (+)NCBINCBI36Build 36hg18NCBI36
Celera152,963,214 - 2,992,602 (+)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef152,939,244 - 2,968,837 (+)NCBIHuRef
CHM1_11524,752,887 - 24,782,722 (+)NCBICHM1_1
T2T-CHM13v2.01522,292,281 - 22,321,898 (+)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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Acromicria  (IAGP)
Adrenal insufficiency  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Breech presentation  (IAGP)
Carious teeth  (IAGP)
Clinodactyly  (IAGP)
Clitoral hypoplasia  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased fetal movement  (IAGP)
Decreased muscle mass  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Dolichocephaly  (IAGP)
Downturned corners of mouth  (IAGP)
Esotropia  (IAGP)
External genital hypoplasia  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized hypopigmentation  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hip dysplasia  (IAGP)
Hyperinsulinemia  (IAGP)
Hypermetropia  (IAGP)
Hypernasal speech  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypoventilation  (IAGP)
Impaired pain sensation  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris hypopigmentation  (IAGP)
Kyphosis  (IAGP)
Low 1-minute APGAR score  (IAGP)
Low 5-minute APGAR score  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow palm  (IAGP)
Neonatal hypotonia  (IAGP)
Obesity  (IAGP)
Oligohydramnios  (IAGP)
Oligomenorrhea  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Polyhydramnios  (IAGP)
Polyphagia  (IAGP)
Poor fine motor coordination  (IAGP)
Poor gross motor coordination  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Primary amenorrhea  (IAGP)
Psychosis  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent respiratory infections  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short foot  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Small hand  (IAGP)
Small scrotum  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Temperature instability  (IAGP)
Thin upper lip vermilion  (IAGP)
Tube feeding  (IAGP)
Type II diabetes mellitus  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:17337158   PMID:19471314   PMID:20301505   PMID:32447825   PMID:32870579   PMID:37291246   PMID:38218456  


Genomics

Variants

.
Variants in PWRN1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NR_026646.1(PWRN1):n.721-1689A>T single nucleotide variant Lung cancer [RCV000099330] Chr15:24572821 [GRCh38]
Chr15:24817968 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
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(chr15:23411789-28314256)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(chr15:23411789-28275167)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
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(chr15:23319714-28275167)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 15q11.2-13.1(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(chr15:24341879-24670107)x3 copy number gain See cases [RCV000051152] Chr15:24341879..24670107 [GRCh38]
Chr15:24587026..24915254 [GRCh37]
Chr15:22138119..22466347 [NCBI36]
Chr15:15q11.2
benign
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(chr15:23319714-28314256)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(chr15:23319714-28681287)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(chr15:23411589-28446455)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 15q11.2-13.1(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 15q11.2-13.2(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 15q11.2-13.1(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 15q11.2-13.1(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 15q11.2-13.1(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(chr15:23411789-28446314)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 15q11.2-13.1(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 15q11.1-13.2(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 15q11.1-13.3(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(chr15:23337069-28272443)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 15q11.2-13.2(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(chr15:23375083-28272443)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(chr15:23398620-28190742)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 15q11.2-13.1(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(chr15:23411589-28275308)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(chr15:23319714-28190742)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(chr15:24186506-24863718)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051950]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051950]|See cases [RCV000051950] Chr15:24186506..24863718 [GRCh38]
Chr15:24431653..25108865 [GRCh37]
Chr15:21982746..22659958 [NCBI36]
Chr15:15q11.2
uncertain significance
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 15q11.1-13.1(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 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
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 Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
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
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(chr15:24096937-24873170)x3 copy number gain See cases [RCV000135319] Chr15:24096937..24873170 [GRCh38]
Chr15:24342084..25118317 [GRCh37]
Chr15:21893177..22669410 [NCBI36]
Chr15:15q11.2
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(chr15:22358243-28481444)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(chr15:23462305-28275167)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(chr15:23319714-28275167)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 15q11.2-13.2(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(chr15:23462105-28290061)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 15q11.2-13.1(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(chr15:23319714-28314256)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(chr15:23462305-28314256)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)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(chr15:24341879-24958682)x3 copy number gain See cases [RCV000137324] Chr15:24341879..24958682 [GRCh38]
Chr15:24587026..25203829 [GRCh37]
Chr15:22138119..22754922 [NCBI36]
Chr15:15q11.2
uncertain significance
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(chr15:23422864-28280314)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(chr15:23523934-28280314)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(chr15:24288070-24786776)x4 copy number gain See cases [RCV000137912] Chr15:24288070..24786776 [GRCh38]
Chr15:24533217..25031923 [GRCh37]
Chr15:22084310..22583016 [NCBI36]
Chr15:15q11.2
pathogenic|uncertain significance
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 15q11.2-14(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 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(chr15:24116502-24873170)x1 copy number loss See cases [RCV000140613] Chr15:24116502..24873170 [GRCh38]
Chr15:24361649..25118317 [GRCh37]
Chr15:21912742..22669410 [NCBI36]
Chr15:15q11.2
uncertain significance
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(chr15:24233258-24955243)x3 copy number gain See cases [RCV000141645] Chr15:24233258..24955243 [GRCh38]
Chr15:24478405..25200390 [GRCh37]
Chr15:22029498..22751483 [NCBI36]
Chr15:15q11.2
uncertain significance
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(chr15:23328044-28315951)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(chr15:23328044-28464569)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(chr15:23370621-28578576)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(chr15:23422864-28460005)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 15q11.2-13.1(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 15q11.2-13.2(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(chr15:23444168-28277347)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 15q11.2-13.1(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 15q11.2-13.3(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
NC_000015.9:g.(?_23730704)_(28530182_?)del deletion Angelman syndrome [RCV000191153] Chr15:23730704..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 copy number gain See cases [RCV000240207] Chr15:20848460..27662530 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225599] Chr15:23624148..28790734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225663] Chr15:20306549..26208861 [GRCh37]
Chr15:15q11.1-12
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) copy number loss Angelman syndrome [RCV002280759] Chr15:23285775..30386399 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) copy number gain 15q11q13 microduplication syndrome [RCV003319585] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
Single allele deletion Prader-Willi syndrome [RCV000520873] Chr15:23707435..28520316 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 copy number loss See cases [RCV000449342] Chr15:23620191..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 copy number loss See cases [RCV000449387] Chr15:23615768..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 copy number loss See cases [RCV000449305] Chr15:23620191..28357230 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 copy number gain See cases [RCV000449160] Chr15:23300138..29338429 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 copy number loss See cases [RCV000447304] Chr15:23290862..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 copy number gain See cases [RCV000446375] Chr15:23290862..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 copy number loss See cases [RCV000446271] Chr15:23615768..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 copy number loss See cases [RCV000447349] Chr15:23286571..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 copy number gain See cases [RCV000446525] Chr15:23487423..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 copy number gain See cases [RCV000447049] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 copy number loss See cases [RCV000446656] Chr15:23620191..28527734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 copy number loss See cases [RCV000447084] Chr15:23620191..28561232 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 copy number gain See cases [RCV000448177] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 copy number gain See cases [RCV000448566] Chr15:23290862..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 copy number loss See cases [RCV000448654] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 copy number loss See cases [RCV000448456] Chr15:23620191..28437018 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 copy number loss See cases [RCV000448093] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 copy number loss See cases [RCV000510622] Chr15:23615768..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 copy number loss See cases [RCV000510211] Chr15:23625784..28540345 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 copy number loss See cases [RCV000510689] Chr15:23615769..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 copy number gain See cases [RCV000510296] Chr15:23615769..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:24339753-25107703)x3 copy number gain See cases [RCV000510716] Chr15:24339753..25107703 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 copy number loss See cases [RCV000511767] Chr15:23290786..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 copy number gain See cases [RCV000511592] Chr15:23615768..28534245 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 copy number loss See cases [RCV000511600] Chr15:23620191..28534359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 copy number gain See cases [RCV000511850] Chr15:23615769..28953483 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 copy number loss See cases [RCV000510883] Chr15:23620191..28539975 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 copy number loss See cases [RCV000511196] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 copy number loss See cases [RCV000510894] Chr15:23620191..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 copy number gain See cases [RCV000510929] Chr15:23620191..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 copy number gain See cases [RCV000510737] Chr15:23620191..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 copy number gain See cases [RCV000511275] Chr15:23290862..28958779 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Autism [RCV000626505] Chr15:23810397..29213787 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 copy number loss See cases [RCV000512394] Chr15:23615769..28163991 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 copy number loss See cases [RCV000512355] Chr15:23620191..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 copy number loss See cases [RCV000512547] Chr15:23286571..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 copy number loss not provided [RCV000683650] Chr15:23637603..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-12(chr15:23662481-25991024)x1 copy number loss not provided [RCV000683651] Chr15:23662481..25991024 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 copy number gain not provided [RCV000683645] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:24791549-25174407)x3 copy number gain not provided [RCV000683654] Chr15:24791549..25174407 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2(chr15:24485840-25119954)x1 copy number loss not provided [RCV000683653] Chr15:24485840..25119954 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 copy number loss not provided [RCV000683643] Chr15:23288374..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:24792806-25107703)x3 copy number gain not provided [RCV000683655] Chr15:24792806..25107703 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 copy number loss not provided [RCV000683641] Chr15:23286571..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 copy number loss not provided [RCV000683642] Chr15:23288374..28705281 [GRCh37]
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 [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 copy number loss not provided [RCV000738660] Chr15:23672782..28532120 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 copy number loss not provided [RCV000738661] Chr15:23672782..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 copy number gain not provided [RCV000738662] Chr15:23693406..29085893 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:24564581-24915898)x3 copy number gain not provided [RCV000738672] Chr15:24564581..24915898 [GRCh37]
Chr15:15q11.2
benign
GRCh37/hg19 15q11.2(chr15:24574352-24855551)x3 copy number gain not provided [RCV000738673] Chr15:24574352..24855551 [GRCh37]
Chr15:15q11.2
benign
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
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 copy number gain not provided [RCV000751181] Chr15:23109890..29085893 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 copy number gain not provided [RCV000751185] Chr15:23656946..28506450 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 copy number gain not provided [RCV000751186] Chr15:23656946..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 copy number gain not provided [RCV000751187] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 copy number loss not provided [RCV000751188] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Angelman syndrome [RCV000767725] Chr15:23683783..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NC_000015.10:g.(?_24566038)_(25781223_?)dup duplication Angelman syndrome [RCV001032676] Chr15:24811185..26026370 [GRCh37]
Chr15:15q11.2-12
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Prader-Willi syndrome [RCV000767726] Chr15:23810184..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) copy number gain 15q11q13 microduplication syndrome [RCV000767753] Chr15:23810184..29213896 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) copy number gain 15q11q13 microduplication syndrome [RCV000767754] Chr15:23810397..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV000825026] Chr15:23810928..28544664 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1 copy number loss not provided [RCV001006666] Chr15:23288374..27706996 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.2(chr15:24493020-25200390)x3 copy number gain not provided [RCV000849159] Chr15:24493020..25200390 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele deletion Angelman syndrome [RCV001250751] Chr15:23579300..28447626 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 copy number loss not provided [RCV001537909] Chr15:23616095..28538904 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 copy number loss not provided [RCV001007484] Chr15:24740574..28659911 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 copy number gain not provided [RCV001310299] Chr15:22833525..27193380 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh37/hg19 15q11.2(chr15:24740574-25200390)x3 copy number gain not provided [RCV001258584] Chr15:24740574..25200390 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2(chr15:24184681-24975056)x3 copy number gain not provided [RCV001258583] Chr15:24184681..24975056 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) copy number loss Angelman syndrome [RCV002280757] Chr15:23615768..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) copy number gain Epileptic encephalopathy [RCV001291989] Chr15:23208842..28525460 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 copy number loss Hypotonia [RCV002284313] Chr15:22770421..25648680 [GRCh37]
Chr15:15q11.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 copy number loss not provided [RCV001281355] Chr15:23707435..28726651 [GRCh37]
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
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) copy number gain Cerebral palsy [RCV001796580] Chr15:22722801..26749200 [GRCh37]
Chr15:15q11.2-12
risk factor
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) copy number gain 15q11q13 microduplication syndrome [RCV002280725] Chr15:23620191..28545601 [GRCh37]
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
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) copy number gain 15q11q13 microduplication syndrome [RCV003236743] Chr15:23684691..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) copy number loss Angelman syndrome [RCV002280758] Chr15:23290862..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 copy number loss See cases [RCV002286346] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 copy number loss not provided [RCV002472551] Chr15:23670891..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 copy number gain not provided [RCV002473944] Chr15:22770422..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 copy number gain not provided [RCV002474488] Chr15:23615769..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 copy number gain not provided [RCV002475662] Chr15:23632678..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 copy number loss not provided [RCV002511813] Chr15:22833525..28544662 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 copy number gain not provided [RCV002475533] Chr15:23620192..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication See cases [RCV003154623] Chr15:22833523..25223593 [GRCh37]
Chr15:15q11.2
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 copy number loss not provided [RCV003222838] Chr15:23406271..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..28566579 [GRCh37]
Chr15:15q11.2-13.1
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
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 copy number gain not provided [RCV003485058] Chr15:22770422..29013164 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 copy number loss not provided [RCV003483220] Chr15:23615769..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1144
Count of miRNA genes:617
Interacting mature miRNAs:689
Transcripts:ENST00000562244, ENST00000562501, ENST00000564898, ENST00000565241, ENST00000565295, ENST00000565512, ENST00000565893, ENST00000567647, ENST00000568019, ENST00000568045, ENST00000568609, ENST00000569908
Prediction methods:Microtar, 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.


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_026646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000561964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,235,078 - 24,275,015 (+)Ensembl
RefSeq Acc Id: ENST00000562244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,455,190 - 24,534,409 (+)Ensembl
RefSeq Acc Id: ENST00000562501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,570,026 - 24,587,773 (+)Ensembl
RefSeq Acc Id: ENST00000564898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,574,952 - 24,652,130 (+)Ensembl
RefSeq Acc Id: ENST00000565241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,217 - 24,568,121 (+)Ensembl
RefSeq Acc Id: ENST00000565295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,145,363 - 24,566,885 (+)Ensembl
RefSeq Acc Id: ENST00000565512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,328,174 - 24,533,908 (+)Ensembl
RefSeq Acc Id: ENST00000565893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,493,137 - 24,513,144 (+)Ensembl
RefSeq Acc Id: ENST00000566676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,261,279 - 24,276,829 (+)Ensembl
RefSeq Acc Id: ENST00000566797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,441,127 - 24,447,967 (+)Ensembl
RefSeq Acc Id: ENST00000567647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,172 - 24,574,527 (+)Ensembl
RefSeq Acc Id: ENST00000568019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,587,597 - 24,652,116 (+)Ensembl
RefSeq Acc Id: ENST00000568045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,491,458 - 24,587,777 (+)Ensembl
RefSeq Acc Id: ENST00000568541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,206,784 - 24,225,854 (+)Ensembl
RefSeq Acc Id: ENST00000568609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,152 - 24,587,779 (+)Ensembl
RefSeq Acc Id: ENST00000569908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,158 - 24,559,592 (+)Ensembl
RefSeq Acc Id: ENST00000570105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,218,297 - 24,300,430 (+)Ensembl
RefSeq Acc Id: ENST00000650789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,150 - 24,664,299 (+)Ensembl
RefSeq Acc Id: ENST00000650803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,200,392 - 24,300,430 (+)Ensembl
RefSeq Acc Id: ENST00000650870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,101,827 - 24,445,011 (+)Ensembl
RefSeq Acc Id: ENST00000650918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,343,612 - 24,378,026 (+)Ensembl
RefSeq Acc Id: ENST00000651067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,385,551 - 24,507,997 (+)Ensembl
RefSeq Acc Id: ENST00000651215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,225,793 - 24,280,569 (+)Ensembl
RefSeq Acc Id: ENST00000651227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,170,066 - 24,278,677 (+)Ensembl
RefSeq Acc Id: ENST00000651552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,059 - 24,507,997 (+)Ensembl
RefSeq Acc Id: ENST00000651558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,126,593 - 24,454,028 (+)Ensembl
RefSeq Acc Id: ENST00000651815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,235,072 - 24,547,911 (+)Ensembl
RefSeq Acc Id: ENST00000652025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,138 - 24,823,365 (+)Ensembl
RefSeq Acc Id: ENST00000652139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,570,064 - 24,752,811 (+)Ensembl
RefSeq Acc Id: ENST00000652316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,158,954 - 24,200,379 (+)Ensembl
RefSeq Acc Id: ENST00000652526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,162 - 24,668,988 (+)Ensembl
RefSeq Acc Id: ENST00000652735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,558,169 - 24,752,682 (+)Ensembl
RefSeq Acc Id: ENST00000655991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,385,559 - 24,533,908 (+)Ensembl
RefSeq Acc Id: ENST00000657427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,197,927 - 24,218,382 (+)Ensembl
RefSeq Acc Id: ENST00000657530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,169,996 - 24,200,522 (+)Ensembl
RefSeq Acc Id: ENST00000660084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,508,859 - 24,534,732 (+)Ensembl
RefSeq Acc Id: ENST00000660695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,107 - 24,306,352 (+)Ensembl
RefSeq Acc Id: ENST00000661140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,107 - 24,306,353 (+)Ensembl
RefSeq Acc Id: ENST00000661593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,058 - 24,300,647 (+)Ensembl
RefSeq Acc Id: ENST00000661753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,343,561 - 24,359,587 (+)Ensembl
RefSeq Acc Id: ENST00000661971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,082 - 24,306,355 (+)Ensembl
RefSeq Acc Id: ENST00000662084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,343,566 - 24,360,272 (+)Ensembl
RefSeq Acc Id: ENST00000663242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,508,705 - 24,514,309 (+)Ensembl
RefSeq Acc Id: ENST00000663548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,082 - 24,306,348 (+)Ensembl
RefSeq Acc Id: ENST00000663854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,044 - 24,276,850 (+)Ensembl
RefSeq Acc Id: ENST00000665535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,385,551 - 24,533,908 (+)Ensembl
RefSeq Acc Id: ENST00000666127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,107 - 24,300,430 (+)Ensembl
RefSeq Acc Id: ENST00000666311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,420,176 - 24,513,059 (+)Ensembl
RefSeq Acc Id: ENST00000667431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,026 - 24,326,385 (+)Ensembl
RefSeq Acc Id: ENST00000667702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,059 - 24,280,338 (+)Ensembl
RefSeq Acc Id: ENST00000668025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,057 - 24,282,991 (+)Ensembl
RefSeq Acc Id: ENST00000668898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,245,088 - 24,306,350 (+)Ensembl
RefSeq Acc Id: ENST00000669607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,343,583 - 24,360,272 (+)Ensembl
RefSeq Acc Id: ENST00000669731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,455,190 - 24,535,808 (+)Ensembl
RefSeq Acc Id: ENST00000669910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,288,161 - 24,300,430 (+)Ensembl
RefSeq Acc Id: ENST00000670594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,343,558 - 24,359,593 (+)Ensembl
RefSeq Acc Id: ENST00000670841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1524,261,071 - 24,282,990 (+)Ensembl
RefSeq Acc Id: NR_026646
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381524,558,157 - 24,587,780 (+)NCBI
GRCh371524,803,304 - 24,832,927 (+)RGD
Celera152,963,214 - 2,992,602 (+)RGD
HuRef152,939,244 - 2,968,837 (+)RGD
CHM1_11524,752,887 - 24,782,722 (+)NCBI
T2T-CHM13v2.01522,292,281 - 22,321,898 (+)NCBI
Sequence:
Promoters
RGD ID:15096868
Promoter ID:EPDNEWNC_H1693
Type:initiation region
Name:PWRN1_1
Description:Prader-Willi region non-protein coding RNA 1 [Source:HGNCSymbol;Acc:HGNC:33235]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381524,558,201 - 24,558,261EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC PWRN1 COSMIC
Ensembl Genes ENSG00000259905 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000568609 ENTREZGENE
GTEx ENSG00000259905 GTEx
HGNC ID HGNC:33235 ENTREZGENE
Human Proteome Map PWRN1 Human Proteome Map
NCBI Gene 791114 ENTREZGENE
OMIM 611215 OMIM
PharmGKB PA162400498 PharmGKB
RNAcentral URS000075E11D RNACentral