NDN (necdin, MAGE family member) - Rat Genome Database

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Gene: NDN (necdin, MAGE family member) Homo sapiens
Analyze
Symbol: NDN
Name: necdin, MAGE family member
RGD ID: 1321479
HGNC Page HGNC:7675
Description: Predicted to enable DNA binding activity; gamma-tubulin binding activity; and promoter-specific chromatin binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; neurotrophin TRK receptor signaling pathway; and positive regulation of nitrogen compound metabolic process. Located in cytosol and nucleoplasm. Implicated in Prader-Willi syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HsT16328; necdin; necdin homolog; necdin, melanoma antigen (MAGE) family member; Prader-Willi syndrome chromosome region; PWCR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100419702  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381523,685,400 - 23,687,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1523,685,400 - 23,687,305 (-)EnsemblGRCh38hg38GRCh38
GRCh371523,930,547 - 23,932,452 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361521,481,647 - 21,483,543 (-)NCBINCBI36Build 36hg18NCBI36
Build 341521,481,646 - 21,483,543NCBI
Celera152,091,460 - 2,093,348 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef152,066,175 - 2,068,071 (-)NCBIHuRef
CHM1_11523,880,849 - 23,882,745 (-)NCBICHM1_1
T2T-CHM13v2.01521,419,888 - 21,421,793 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
centrosome  (IEA)
cytoplasm  (IEA)
cytosol  (IDA,IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)
perikaryon  (IEA)
protein-containing complex  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal temper tantrums  (IAGP)
Abnormal ulnar metaphysis morphology  (IAGP)
Abnormality of vision  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Bulimia  (IAGP)
Central adrenal insufficiency  (IAGP)
Central apnea  (IAGP)
Central hypothyroidism  (IAGP)
Clitoral hypoplasia  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating gonadotropin concentration  (IAGP)
Decreased circulating T4 concentration  (IAGP)
Decreased fetal movement  (IAGP)
Decreased inhibin B level  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Diabetes mellitus  (IAGP)
Downturned corners of mouth  (IAGP)
External genital hypoplasia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastroparesis  (IAGP)
Global developmental delay  (IAGP)
Hip dysplasia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypotonia  (IAGP)
Impaired temperature sensation  (IAGP)
Infertility  (IAGP)
Intellectual disability, borderline  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Iris hypopigmentation  (IAGP)
Narrow palm  (IAGP)
Neonatal hypotonia  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive trait  (IAGP)
Obstructive sleep apnea  (IAGP)
Occipital cortical atrophy  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Parietal cortical atrophy  (IAGP)
Pedal edema  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Polyphagia  (IAGP)
Postterm pregnancy  (IAGP)
Precocious puberty  (IAGP)
Premature adrenarche  (IAGP)
Premature pubarche  (IAGP)
Primary amenorrhea  (IAGP)
Psychosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Skin-picking  (IAGP)
Sleep abnormality  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Small scrotum  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Strabismus  (IAGP)
Thin upper lip vermilion  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region. Nakada Y, etal., Gene. 1998 Jun 15;213(1-2):65-72.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1394972   PMID:9302265   PMID:9354807   PMID:9422723   PMID:10347180   PMID:10915798   PMID:10965153   PMID:11439287   PMID:11813259   PMID:11959851   PMID:12198120   PMID:12414813  
PMID:12477932   PMID:12716928   PMID:12913118   PMID:14593116   PMID:15247330   PMID:15489334   PMID:15978586   PMID:16169070   PMID:17207965   PMID:17353931   PMID:18272695   PMID:18660489  
PMID:18753379   PMID:19058789   PMID:19386232   PMID:19517793   PMID:19626646   PMID:20029029   PMID:20195357   PMID:20538960   PMID:20665884   PMID:20864041   PMID:21150695   PMID:21364888  
PMID:21502952   PMID:21543378   PMID:21873635   PMID:21912643   PMID:22046235   PMID:22305984   PMID:22442722   PMID:22691188   PMID:22905258   PMID:23549060   PMID:23785149   PMID:24722188  
PMID:25178676   PMID:26384308   PMID:26518708   PMID:26689988   PMID:26871637   PMID:26971449   PMID:28213671   PMID:28521288   PMID:28973533   PMID:29343559   PMID:30102380   PMID:32529326  
PMID:32814053   PMID:34591642   PMID:35013218   PMID:35944360  


Genomics

Comparative Map Data
NDN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381523,685,400 - 23,687,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1523,685,400 - 23,687,305 (-)EnsemblGRCh38hg38GRCh38
GRCh371523,930,547 - 23,932,452 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361521,481,647 - 21,483,543 (-)NCBINCBI36Build 36hg18NCBI36
Build 341521,481,646 - 21,483,543NCBI
Celera152,091,460 - 2,093,348 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef152,066,175 - 2,068,071 (-)NCBIHuRef
CHM1_11523,880,849 - 23,882,745 (-)NCBICHM1_1
T2T-CHM13v2.01521,419,888 - 21,421,793 (-)NCBIT2T-CHM13v2.0
Ndn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39761,998,025 - 61,999,676 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl761,996,317 - 62,000,010 (+)EnsemblGRCm39 Ensembl
GRCm38762,348,277 - 62,349,928 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl762,346,569 - 62,350,262 (+)EnsemblGRCm38mm10GRCm38
MGSCv37769,493,163 - 69,494,814 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36762,227,298 - 62,228,878 (+)NCBIMGSCv36mm8
MGSCv36751,709,553 - 51,711,133 (+)NCBIMGSCv36mm8
Cytogenetic Map7CNCBI
cM Map734.36NCBI
Ndn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81125,261,059 - 125,262,658 (+)NCBIGRCr8
mRatBN7.21115,849,168 - 115,850,767 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1115,849,105 - 115,850,767 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1123,796,017 - 123,797,616 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01130,978,517 - 130,980,116 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01123,804,265 - 123,805,864 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01122,981,755 - 122,983,354 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1122,981,755 - 122,983,351 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01124,119,141 - 124,120,740 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41116,594,603 - 116,596,202 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11116,672,945 - 116,674,545 (+)NCBI
Celera1108,120,324 - 108,121,923 (+)NCBICelera
Cytogenetic Map1q22NCBI
Ndn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541631,125,924 - 31,126,889 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541631,125,354 - 31,127,010 (-)NCBIChiLan1.0ChiLan1.0
NDN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21611,419,144 - 11,420,810 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11514,994,194 - 14,995,858 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0155,977,519 - 5,979,185 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11521,176,270 - 21,177,467 (-)NCBIpanpan1.1PanPan1.1panPan2
NDN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1336,313,977 - 36,315,661 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl336,314,104 - 36,315,081 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha338,977,703 - 38,979,382 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0336,703,979 - 36,705,659 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl336,703,985 - 36,705,961 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1336,210,187 - 36,211,865 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0336,473,293 - 36,474,972 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0336,617,808 - 36,619,491 (+)NCBIUU_Cfam_GSD_1.0
Ndn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640124,509,175 - 124,510,858 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936805849,345 - 850,322 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936805849,218 - 850,894 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1142,412,565 - 142,414,240 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11142,412,688 - 142,413,665 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21158,275,444 - 158,276,423 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12657,939,212 - 57,940,868 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2657,939,330 - 57,940,295 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605440,938,673 - 40,940,350 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624768579,607 - 581,302 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDN
30 total Variants

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(chr15:23319714-28785371)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 15q11.2-13.3(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 15q11.2-13.1(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 15q11.2-13.2(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(chr15:23319714-28190742)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(chr15:23398620-28190742)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)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 15q11.1-13.1(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
NM_002487.2(NDN):c.892C>T (p.Leu298=) single nucleotide variant Malignant melanoma [RCV000070698] Chr15:23686326 [GRCh38]
Chr15:23931473 [GRCh37]
Chr15:21482566 [NCBI36]
Chr15:15q11.2
not provided
NM_002487.2(NDN):c.885A>C (p.Arg295Ser) single nucleotide variant Malignant melanoma [RCV000070699] Chr15:23686333 [GRCh38]
Chr15:23931480 [GRCh37]
Chr15:21482573 [NCBI36]
Chr15:15q11.2
not provided
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) single nucleotide variant Prader-Willi syndrome [RCV000662114] Chr15:23686685 [GRCh38]
Chr15:23931832 [GRCh37]
Chr15:15q11.2
uncertain significance
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(chr15:23319714-28275170)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(chr15:23462288-28314291)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(chr15:23328044-28154050)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(chr15:22358243-28481444)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 15q11.2-13.1(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(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)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 15q11.2-12(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 15q11.2-14(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(chr15:23319714-32217731)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 15q11.2-13.1(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 15q11.1-13.3(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(chr15:23370621-28414765)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(chr15:23328044-28315951)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 15q11.2-13.1(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(chr15:23319714-30527306)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 15q11.2-13.2(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 15q11.2-13.1(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(chr15:23319714-28275167)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(chr15:23319714-28446314)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
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 15q11.2-13.1(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(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [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
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 15q11.2-13.1(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(chr15:23633652-24093847)x3 copy number gain See cases [RCV000446198] Chr15:23633652..24093847 [GRCh37]
Chr15:15q11.2
likely benign
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(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)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 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.2(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 15q11.2-26.3(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
NM_002487.3(NDN):c.130C>G (p.Pro44Ala) single nucleotide variant Inborn genetic diseases [RCV003304542] Chr15:23687088 [GRCh38]
Chr15:23932235 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.418C>A (p.Leu140Ile) single nucleotide variant Inborn genetic diseases [RCV003252801] Chr15:23686800 [GRCh38]
Chr15:23931947 [GRCh37]
Chr15:15q11.2
uncertain significance
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
NM_002487.3(NDN):c.953T>C (p.Val318Ala) single nucleotide variant not provided [RCV000515108] Chr15:23686265 [GRCh38]
Chr15:23931412 [GRCh37]
Chr15:15q11.2
benign|likely benign
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 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(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 15q11.2-13.2(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(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)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 15q11.2-13.2(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(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)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
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 15q11.2-13.1(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(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [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(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [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(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
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 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [GRCh37]
Chr15:15q11.2-13.1
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
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 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
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 15q11.2-13.1(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(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
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 15q11.2-12(chr15:23288374-27706996)x1 copy number loss not provided [RCV001006666] Chr15:23288374..27706996 [GRCh37]
Chr15:15q11.2-12
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(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [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 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.3(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
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(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_002487.3(NDN):c.649C>T (p.Leu217=) single nucleotide variant not provided [RCV000940252] Chr15:23686569 [GRCh38]
Chr15:23931716 [GRCh37]
Chr15:15q11.2
benign
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
NM_002487.3(NDN):c.174C>G (p.Pro58=) single nucleotide variant not provided [RCV000919611] Chr15:23687044 [GRCh38]
Chr15:23932191 [GRCh37]
Chr15:15q11.2
likely benign
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(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [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 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_002487.3(NDN):c.51C>A (p.Ala17=) single nucleotide variant not provided [RCV000959933] Chr15:23687167 [GRCh38]
Chr15:23932314 [GRCh37]
Chr15:15q11.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
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
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
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) single nucleotide variant Prader-Willi syndrome [RCV001196147] Chr15:23687006 [GRCh38]
Chr15:23932153 [GRCh37]
Chr15:15q11.2
uncertain significance
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 15q11.2-13.1(chr15:23684691-28566579) copy number gain 15q11q13 microduplication syndrome [RCV003236743] Chr15:23684691..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_002487.3(NDN):c.117A>G (p.Ala39=) single nucleotide variant not provided [RCV000932308] Chr15:23687101 [GRCh38]
Chr15:23932248 [GRCh37]
Chr15:15q11.2
likely benign
NM_002487.3(NDN):c.690C>T (p.Asp230=) single nucleotide variant not provided [RCV000974018] Chr15:23686528 [GRCh38]
Chr15:23931675 [GRCh37]
Chr15:15q11.2
likely benign
NM_002487.3(NDN):c.949A>G (p.Ser317Gly) single nucleotide variant not provided [RCV000910685] Chr15:23686269 [GRCh38]
Chr15:23931416 [GRCh37]
Chr15:15q11.2
likely benign
NM_002487.3(NDN):c.768C>T (p.Pro256=) single nucleotide variant not provided [RCV000910686] Chr15:23686450 [GRCh38]
Chr15:23931597 [GRCh37]
Chr15:15q11.2
benign
NM_002487.3(NDN):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV000885505] Chr15:23686955 [GRCh38]
Chr15:23932102 [GRCh37]
Chr15:15q11.2
benign
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
NM_002487.3(NDN):c.472dup (p.Thr158fs) duplication Prader-Willi syndrome [RCV001196772] Chr15:23686745..23686746 [GRCh38]
Chr15:23931892..23931893 [GRCh37]
Chr15:15q11.2
uncertain significance
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 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [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 15q11.2-13.1(chr15:23707435-28726651)x1 copy number loss not provided [RCV001281355] Chr15:23707435..28726651 [GRCh37]
Chr15:15q11.2-13.1
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
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_002487.3(NDN):c.340C>G (p.Gln114Glu) single nucleotide variant not provided [RCV001776743] Chr15:23686878 [GRCh38]
Chr15:23932025 [GRCh37]
Chr15:15q11.2
uncertain significance
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
NM_002487.3(NDN):c.602A>G (p.Lys201Arg) single nucleotide variant not provided [RCV001806910] Chr15:23686616 [GRCh38]
Chr15:23931763 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.9:g.(?_23006221)_(23932364_?)dup duplication not provided [RCV001988148] Chr15:23006221..23932364 [GRCh37]
Chr15:15q11.2
uncertain significance
GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3 copy number gain not provided [RCV001832958] Chr15:22770422..24058623 [GRCh37]
Chr15:15q11.2
likely pathogenic
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_002487.3(NDN):c.871C>A (p.Pro291Thr) single nucleotide variant Prader-Willi syndrome [RCV001843860] Chr15:23686347 [GRCh38]
Chr15:23931494 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.865G>A (p.Ala289Thr) single nucleotide variant not provided [RCV002211283] Chr15:23686353 [GRCh38]
Chr15:23931500 [GRCh37]
Chr15:15q11.2
uncertain significance
NC_000015.9:g.(?_23006221)_(23932364_?)del deletion not provided [RCV003119950] Chr15:23006221..23932364 [GRCh37]
Chr15:15q11.2
uncertain significance
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(chr15:23290862-28522838) 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(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
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
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
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
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 15q11.2-13.2(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(chr15:23615769-28545601)x3 copy number gain not provided [RCV002474488] Chr15:23615769..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 copy number gain not provided [RCV002475662] Chr15:23632678..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)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
NM_002487.3(NDN):c.872C>T (p.Pro291Leu) single nucleotide variant Inborn genetic diseases [RCV002782782] Chr15:23686346 [GRCh38]
Chr15:23931493 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.729T>A (p.Asn243Lys) single nucleotide variant Inborn genetic diseases [RCV002868614] Chr15:23686489 [GRCh38]
Chr15:23931636 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.838G>T (p.Ala280Ser) single nucleotide variant Inborn genetic diseases [RCV002742865] Chr15:23686380 [GRCh38]
Chr15:23931527 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.65T>G (p.Val22Gly) single nucleotide variant Inborn genetic diseases [RCV002708969] Chr15:23687153 [GRCh38]
Chr15:23932300 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.146C>T (p.Thr49Met) single nucleotide variant Inborn genetic diseases [RCV002850056] Chr15:23687072 [GRCh38]
Chr15:23932219 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.413G>A (p.Ser138Asn) single nucleotide variant Inborn genetic diseases [RCV002699703] Chr15:23686805 [GRCh38]
Chr15:23931952 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.198C>G (p.Asp66Glu) single nucleotide variant Inborn genetic diseases [RCV002792594] Chr15:23687020 [GRCh38]
Chr15:23932167 [GRCh37]
Chr15:15q11.2
uncertain significance
NM_002487.3(NDN):c.244G>T (p.Ala82Ser) single nucleotide variant Inborn genetic diseases [RCV002675100] Chr15:23686974 [GRCh38]
Chr15:23932121 [GRCh37]
Chr15:15q11.2
uncertain significance
Single allele duplication See cases [RCV003154623] Chr15:22833523..25223593 [GRCh37]
Chr15:15q11.2
likely pathogenic
NM_002487.3(NDN):c.386T>C (p.Ile129Thr) single nucleotide variant Inborn genetic diseases [RCV003278133] Chr15:23686832 [GRCh38]
Chr15:23931979 [GRCh37]
Chr15:15q11.2
uncertain significance
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
NM_002487.3(NDN):c.56A>G (p.Asn19Ser) single nucleotide variant Inborn genetic diseases [RCV003178129] Chr15:23687162 [GRCh38]
Chr15:23932309 [GRCh37]
Chr15:15q11.2
likely benign
NM_002487.3(NDN):c.796G>A (p.Ala266Thr) single nucleotide variant Inborn genetic diseases [RCV003211797] Chr15:23686422 [GRCh38]
Chr15:23931569 [GRCh37]
Chr15:15q11.2
uncertain significance
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
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 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..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
NM_002487.3(NDN):c.176A>G (p.Gln59Arg) single nucleotide variant Inborn genetic diseases [RCV003377131] Chr15:23687042 [GRCh38]
Chr15:23932189 [GRCh37]
Chr15:15q11.2
uncertain significance
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
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
NM_002487.3(NDN):c.504C>T (p.Val168=) single nucleotide variant not provided [RCV003390460] Chr15:23686714 [GRCh38]
Chr15:23931861 [GRCh37]
Chr15:15q11.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:287
Count of miRNA genes:250
Interacting mature miRNAs:262
Transcripts:ENST00000331837
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.

Markers in Region
SGC30582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,930,858 - 23,930,963UniSTSGRCh37
Build 361521,481,951 - 21,482,056RGDNCBI36
Celera152,091,764 - 2,091,869RGD
Cytogenetic Map15q11.2-q12UniSTS
HuRef152,066,479 - 2,066,584UniSTS
GeneMap99-GB4 RH Map1525.05UniSTS
Whitehead-RH Map1513.7UniSTS
NCBI RH Map1510.0UniSTS
PMC24540P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,931,575 - 23,932,067UniSTSGRCh37
Build 361521,482,668 - 21,483,160RGDNCBI36
Celera152,092,481 - 2,092,973RGD
Cytogenetic Map15q11.2-q12UniSTS
HuRef152,067,196 - 2,067,688UniSTS
NDN_940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,930,818 - 23,931,643UniSTSGRCh37
Build 361521,481,911 - 21,482,736RGDNCBI36
Celera152,091,724 - 2,092,549RGD
HuRef152,066,439 - 2,067,264UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2159 2112 1317 214 525 70 3419 1421 3277 247 1306 1433 146 1204 2036 2
Low 171 348 388 395 448 377 919 756 420 141 79 69 24 1 752 2 2
Below cutoff 12 518 7 5 643 5 5 7 6 6 9 28 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC270095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000649030   ⟹   ENSP00000497916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,685,400 - 23,687,305 (-)Ensembl
RefSeq Acc Id: NM_002487   ⟹   NP_002478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,685,400 - 23,687,305 (-)NCBI
GRCh371523,930,554 - 23,932,450 (-)ENTREZGENE
Build 361521,481,647 - 21,483,543 (-)NCBI Archive
HuRef152,066,175 - 2,068,071 (-)ENTREZGENE
CHM1_11523,880,849 - 23,882,745 (-)NCBI
T2T-CHM13v2.01521,419,888 - 21,421,793 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002478   ⟸   NM_002487
- UniProtKB: B2R6Z5 (UniProtKB/Swiss-Prot),   Q99608 (UniProtKB/Swiss-Prot),   X5D982 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497916   ⟸   ENST00000649030
Protein Domains
MAGE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99608-F1-model_v2 AlphaFold Q99608 1-321 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7675 AgrOrtholog
COSMIC NDN COSMIC
Ensembl Genes ENSG00000182636 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000649030 ENTREZGENE
  ENST00000649030.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.1200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.10.1210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182636 GTEx
HGNC ID HGNC:7675 ENTREZGENE
Human Proteome Map NDN Human Proteome Map
InterPro MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4692 ENTREZGENE
OMIM 602117 OMIM
PANTHER PTHR11736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11736:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31479 PharmGKB
PROSITE MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3Y6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3Z2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z442_HUMAN UniProtKB/TrEMBL
  A0A0S2Z486_HUMAN UniProtKB/TrEMBL
  B2R6Z5 ENTREZGENE
  NECD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X5D2Y6_HUMAN UniProtKB/TrEMBL
  X5D982 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R6Z5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 NDN  necdin, MAGE family member  NDN  necdin, melanoma antigen (MAGE) family member  Symbol and/or name change 5135510 APPROVED
2012-12-12 NDN  necdin, melanoma antigen (MAGE) family member  NDN  necdin homolog (mouse)  Symbol and/or name change 5135510 APPROVED