GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) - Rat Genome Database

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Gene: GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) Homo sapiens
Analyze
Symbol: GABRA5
Name: gamma-aminobutyric acid type A receptor subunit alpha5
RGD ID: 736048
HGNC Page HGNC:4079
Description: Enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to act upstream of or within associative learning and behavioral fear response. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in bipolar disorder; depressive disorder; and developmental and epileptic encephalopathy 79. Biomarker of autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE79; EIEE79; GABA(A) receptor subunit alpha-5; GABA(A) receptor, alpha 5; gamma-aminobutyric acid (GABA) A receptor, alpha 5; gamma-aminobutyric acid receptor subunit alpha-5; gamma-aminobutyric acid type A receptor alpha5 subunit; MGC138184
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BW330_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381526,866,719 - 26,949,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1526,866,911 - 26,949,208 (+)EnsemblGRCh38hg38GRCh38
GRCh371527,111,866 - 27,194,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361524,663,151 - 24,679,797 (+)NCBINCBI36Build 36hg18NCBI36
Build 361524,742,696 - 24,776,749 (+)NCBINCBI36Build 36hg18NCBI36
Build 341524,742,694 - 24,776,749NCBI
Celera155,273,203 - 5,355,540 (+)NCBICelera
Cytogenetic Map15q12NCBI
HuRef155,241,009 - 5,262,207 (+)NCBIHuRef
HuRef155,288,011 - 5,322,374 (+)NCBIHuRef
CHM1_11527,061,401 - 27,143,890 (+)NCBICHM1_1
T2T-CHM13v2.01524,607,751 - 24,690,792 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brain atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
CNS hypomyelination  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Migrating focal seizure  (IAGP)
Motor delay  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tonic seizure  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. Fatemi SH, etal., J Autism Dev Disord. 2010 Jun;40(6):743-50.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Excess of allele1 for alpha3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study. Massat I, etal., Mol Psychiatry 2002;7(2):201-7.
4. Positive association between the GABRA5 gene and unipolar recurrent major depression. Oruc L, etal., Neuropsychobiology 1997;36(2):62-4.
5. Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder. Papadimitriou GN, etal., Am J Med Genet 1998 Feb 7;81(1):73-80.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1321750   PMID:1338907   PMID:7851879   PMID:8388764   PMID:9126483   PMID:9205108   PMID:9668167   PMID:11140838   PMID:11287792   PMID:11378843   PMID:12048673   PMID:12477932  
PMID:14702039   PMID:15033447   PMID:15489334   PMID:15882799   PMID:16080114   PMID:16344560   PMID:16674551   PMID:17353214   PMID:17580321   PMID:17680603   PMID:17681556   PMID:17957331  
PMID:19058789   PMID:19078961   PMID:19086053   PMID:19328558   PMID:19736351   PMID:19913121   PMID:20468064   PMID:20628086   PMID:20692323   PMID:20843900   PMID:21751815   PMID:21873635  
PMID:22020285   PMID:22546616   PMID:24227714   PMID:24755890   PMID:25211390   PMID:25613138   PMID:25660468   PMID:25663431   PMID:26169564   PMID:26876472   PMID:28514442   PMID:28607477  
PMID:29725984   PMID:29787571   PMID:29961870   PMID:30140029   PMID:30282698   PMID:31056671   PMID:31840824   PMID:33961781   PMID:35562522   PMID:35822698   PMID:36469977  


Genomics

Comparative Map Data
GABRA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381526,866,719 - 26,949,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1526,866,911 - 26,949,208 (+)EnsemblGRCh38hg38GRCh38
GRCh371527,111,866 - 27,194,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361524,663,151 - 24,679,797 (+)NCBINCBI36Build 36hg18NCBI36
Build 361524,742,696 - 24,776,749 (+)NCBINCBI36Build 36hg18NCBI36
Build 341524,742,694 - 24,776,749NCBI
Celera155,273,203 - 5,355,540 (+)NCBICelera
Cytogenetic Map15q12NCBI
HuRef155,241,009 - 5,262,207 (+)NCBIHuRef
HuRef155,288,011 - 5,322,374 (+)NCBIHuRef
CHM1_11527,061,401 - 27,143,890 (+)NCBICHM1_1
T2T-CHM13v2.01524,607,751 - 24,690,792 (+)NCBIT2T-CHM13v2.0
Gabra5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39757,057,417 - 57,240,808 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl757,057,420 - 57,159,807 (-)EnsemblGRCm39 Ensembl
GRCm38757,407,669 - 57,591,016 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl757,407,672 - 57,510,059 (-)EnsemblGRCm38mm10GRCm38
MGSCv37764,663,039 - 64,765,379 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36757,275,688 - 57,377,873 (-)NCBIMGSCv36mm8
Celera754,720,522 - 54,830,242 (-)NCBICelera
Cytogenetic Map7B5NCBI
cM Map733.52NCBI
Gabra5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81117,404,446 - 117,517,424 (-)NCBIGRCr8
mRatBN7.21108,268,728 - 108,381,670 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1108,268,776 - 108,380,917 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1113,646,984 - 113,751,778 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01122,119,493 - 122,224,279 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01115,367,807 - 115,472,601 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01112,833,941 - 112,947,482 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1112,833,944 - 112,947,451 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01113,844,235 - 113,955,760 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41108,843,086 - 108,955,130 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11108,921,428 - 109,033,473 (-)NCBI
Celera1102,441,576 - 102,547,389 (-)NCBICelera
Cytogenetic Map1q22NCBI
Gabra5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555332,563,319 - 2,631,289 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555332,563,499 - 2,631,086 (-)NCBIChiLan1.0ChiLan1.0
GABRA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2168,328,194 - 8,411,167 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11511,969,290 - 12,052,259 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0152,953,857 - 3,036,722 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11524,300,300 - 24,382,535 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1524,300,300 - 24,382,730 (+)Ensemblpanpan1.1panPan2
GABRA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1333,663,414 - 33,746,120 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl333,664,169 - 33,744,328 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha336,353,800 - 36,436,241 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0333,999,325 - 34,081,790 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl333,999,318 - 34,081,948 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1333,539,876 - 33,622,259 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0333,802,491 - 33,884,937 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0333,949,742 - 34,032,243 (-)NCBIUU_Cfam_GSD_1.0
Gabra5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640121,933,396 - 122,009,905 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647139,781,451 - 39,975,518 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647139,781,451 - 39,856,766 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABRA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1140,486,104 - 140,567,894 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11140,486,107 - 140,568,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21156,791,330 - 156,874,272 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GABRA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12655,147,512 - 55,227,801 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2655,147,511 - 55,227,297 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605437,978,006 - 38,060,544 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabra5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248961,267,077 - 1,337,038 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GABRA5
57 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
NM_000810.3(GABRA5):c.580+672T>A single nucleotide variant Lung cancer [RCV000099379] Chr15:26915557 [GRCh38]
Chr15:27160704 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.3(GABRA5):c.580+4646A>G single nucleotide variant Lung cancer [RCV000099380] Chr15:26919531 [GRCh38]
Chr15:27164678 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.3(GABRA5):c.580+7056C>A single nucleotide variant Lung cancer [RCV000099381] Chr15:26921941 [GRCh38]
Chr15:27167088 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.3(GABRA5):c.878-1471C>A single nucleotide variant Lung cancer [RCV000099382] Chr15:26941744 [GRCh38]
Chr15:27186891 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.3(GABRA5):c.982T>C (p.Tyr328His) single nucleotide variant Lung cancer [RCV000099383] Chr15:26943319 [GRCh38]
Chr15:27188466 [GRCh37]
Chr15:15q12
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 copy number loss See cases [RCV000050850] Chr15:23411789..28314256 [GRCh38]
Chr15:23656936..28557186 [GRCh37]
Chr15:21208377..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000050557] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000050559] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000050742] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000050733] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(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 15q11.2-13.1(chr15:24780911-29668996)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] Chr15:24780911..29668996 [GRCh38]
Chr15:25026058..29961200 [GRCh37]
Chr15:22577151..27748492 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 copy number loss See cases [RCV000052353] Chr15:23319714..30109283 [GRCh38]
Chr15:22669052..30401486 [GRCh37]
Chr15:20220416..28188778 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(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 15q12(chr15:26575931-27051075)x1 copy number loss See cases [RCV000051951] Chr15:26575931..27051075 [GRCh38]
Chr15:26821078..27296222 [GRCh37]
Chr15:24372171..24878968 [NCBI36]
Chr15:15q12
uncertain significance
GRCh38/hg38 15q12(chr15:26856856-27620867)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052104]|See cases [RCV000052104] Chr15:26856856..27620867 [GRCh38]
Chr15:27102003..27866013 [GRCh37]
Chr15:24653096..25539608 [NCBI36]
Chr15:15q12
uncertain significance
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|See cases [RCV000053226] Chr15:23319714..27051075 [GRCh38]
Chr15:22698522..27296222 [GRCh37]
Chr15:20249886..24878968 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] Chr15:23319714..30527306 [GRCh38]
Chr15:22698522..30819509 [GRCh37]
Chr15:20249886..28606801 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000053232] Chr15:23319714..28275167 [GRCh38]
Chr15:22765628..28520313 [GRCh37]
Chr15:20316992..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053233] Chr15:23319714..30073921 [GRCh38]
Chr15:22863854..30366124 [GRCh37]
Chr15:20415295..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 copy number gain See cases [RCV000053234] Chr15:23319714..28446455 [GRCh38]
Chr15:23300038..28691601 [GRCh37]
Chr15:20851479..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] Chr15:23319714..28275308 [GRCh38]
Chr15:23300038..28520454 [GRCh37]
Chr15:20851479..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
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 15q11.2-12(chr15:22833525-27193380)x4 copy number gain not provided [RCV001310299] Chr15:22833525..27193380 [GRCh37]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 copy number gain See cases [RCV000053224] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053230] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 copy number loss See cases [RCV000134719] Chr15:23462288..28694922 [GRCh38]
Chr15:23707435..28940068 [GRCh37]
Chr15:21258528..26739109 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 copy number loss See cases [RCV000134437] Chr15:23439508..28154050 [GRCh38]
Chr15:23684655..28399196 [GRCh37]
Chr15:21236096..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 copy number loss See cases [RCV000134053] Chr15:23462288..28275170 [GRCh38]
Chr15:23707435..28520316 [GRCh37]
Chr15:21258528..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)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 15q11.2-13.1(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 copy number loss See cases [RCV000139335] Chr15:23410917..28446301 [GRCh38]
Chr15:23656064..28691447 [GRCh37]
Chr15:21207505..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 copy number gain See cases [RCV000139162] Chr15:23319714..28446301 [GRCh38]
Chr15:23300254..28691447 [GRCh37]
Chr15:20851695..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 copy number gain See cases [RCV000139948] Chr15:23328044..28638603 [GRCh38]
Chr15:22652060..28883749 [GRCh37]
Chr15:20203424..26682790 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 copy number loss See cases [RCV000139980] Chr15:23370621..28289312 [GRCh38]
Chr15:23615768..28534458 [GRCh37]
Chr15:21167209..26208053 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 copy number loss See cases [RCV000139986] Chr15:23375044..28300209 [GRCh38]
Chr15:23620191..28545355 [GRCh37]
Chr15:21171632..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 copy number loss See cases [RCV000140454] Chr15:23328044..28578576 [GRCh38]
Chr15:22770421..28823722 [GRCh37]
Chr15:20321785..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 copy number loss See cases [RCV000139647] Chr15:23999707..28314256 [GRCh38]
Chr15:24244854..28557186 [GRCh37]
Chr15:21795947..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000140712] Chr15:23319714..28446314 [GRCh38]
Chr15:22765628..28691460 [GRCh37]
Chr15:20316992..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 copy number loss See cases [RCV000140888] Chr15:23328044..28300209 [GRCh38]
Chr15:23286571..28545355 [GRCh37]
Chr15:20838012..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 copy number loss See cases [RCV000141946] Chr15:23370621..28414765 [GRCh38]
Chr15:23615768..28659911 [GRCh37]
Chr15:21167209..26333506 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 copy number loss See cases [RCV000141728] Chr15:23370622..28414892 [GRCh38]
Chr15:23615769..28660038 [GRCh37]
Chr15:21167210..26333633 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 copy number loss See cases [RCV000141730] Chr15:23328044..28836775 [GRCh38]
Chr15:22770421..29081921 [GRCh37]
Chr15:20321785..26880962 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 copy number loss See cases [RCV000142069] Chr15:23328044..28315123 [GRCh38]
Chr15:22770421..28560269 [GRCh37]
Chr15:20321785..26233864 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)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 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-12(chr15:24051424-27222420)x1 copy number loss See cases [RCV000143716] Chr15:24051424..27222420 [GRCh38]
Chr15:24296571..27467567 [GRCh37]
Chr15:21847664..25050313 [NCBI36]
Chr15:15q11.2-12
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 copy number loss See cases [RCV000143702] Chr15:23328044..28294829 [GRCh38]
Chr15:22770421..28539975 [GRCh37]
Chr15:20321785..26213570 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 copy number loss See cases [RCV000143744] Chr15:23370622..28300209 [GRCh38]
Chr15:23615769..28545355 [GRCh37]
Chr15:21167210..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000148062] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 copy number gain See cases [RCV000143666] Chr15:23444168..28277347 [GRCh38]
Chr15:23689315..28522493 [GRCh37]
Chr15:21240408..26196088 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 copy number gain See cases [RCV000143479] Chr15:23328044..28713633 [GRCh38]
Chr15:22770421..28958779 [GRCh37]
Chr15:20321785..26757820 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 copy number loss See cases [RCV000143483] Chr15:23328044..28478308 [GRCh38]
Chr15:22770421..28723454 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)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 [RCV000225563] Chr15:25334522..28369712 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225599] Chr15:23624148..28790734 [GRCh37]
Chr15:15q11.2-13.1
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 15q11.2-13.3(chr15:25583931-32418279)x3 copy number gain See cases [RCV000240575] Chr15:25583931..32418279 [GRCh37]
Chr15:15q11.2-13.3
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(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1
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
NM_000810.4(GABRA5):c.1268G>A (p.Ser423Asn) single nucleotide variant not provided [RCV003221573] Chr15:26948112 [GRCh38]
Chr15:27193259 [GRCh37]
Chr15:15q12
uncertain significance
Single allele deletion Prader-Willi syndrome [RCV000520873] Chr15:23707435..28520316 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 copy number loss See cases [RCV000449342] Chr15:23620191..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 copy number loss See cases [RCV000449387] Chr15:23615768..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 copy number loss See cases [RCV000449305] Chr15:23620191..28357230 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 copy number gain See cases [RCV000449160] Chr15:23300138..29338429 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 copy number loss See cases [RCV000447304] Chr15:23290862..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 copy number gain See cases [RCV000446375] Chr15:23290862..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 copy number loss See cases [RCV000446271] Chr15:23615768..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 copy number loss See cases [RCV000447349] Chr15:23286571..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 copy number gain See cases [RCV000446525] Chr15:23487423..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 copy number gain See cases [RCV000447049] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 copy number loss See cases [RCV000446656] Chr15:23620191..28527734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 copy number loss See cases [RCV000447084] Chr15:23620191..28561232 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 copy number gain See cases [RCV000448177] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 copy number gain See cases [RCV000448566] Chr15:23290862..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 copy number loss See cases [RCV000448654] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 copy number loss See cases [RCV000448456] Chr15:23620191..28437018 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 copy number loss See cases [RCV000448093] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 copy number loss See cases [RCV000510622] Chr15:23615768..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 copy number loss See cases [RCV000510211] Chr15:23625784..28540345 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 copy number loss See cases [RCV000510689] Chr15:23615769..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 copy number gain See cases [RCV000510296] Chr15:23615769..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-26.3(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 15q12(chr15:26213602-27266045)x1 copy number loss See cases [RCV000511623] Chr15:26213602..27266045 [GRCh37]
Chr15:15q12
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 copy number loss See cases [RCV000511767] Chr15:23290786..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 copy number gain See cases [RCV000511592] Chr15:23615768..28534245 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 copy number loss See cases [RCV000511600] Chr15:23620191..28534359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 copy number gain See cases [RCV000511850] Chr15:23615769..28953483 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 copy number loss See cases [RCV000510883] Chr15:23620191..28539975 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 copy number loss See cases [RCV000511196] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 copy number loss See cases [RCV000510894] Chr15:23620191..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 copy number gain See cases [RCV000510929] Chr15:23620191..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 copy number gain See cases [RCV000510737] Chr15:23620191..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 copy number gain See cases [RCV000511275] Chr15:23290862..28958779 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Autism [RCV000626505] Chr15:23810397..29213787 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 copy number loss See cases [RCV000512394] Chr15:23615769..28163991 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 copy number loss See cases [RCV000512355] Chr15:23620191..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 copy number loss See cases [RCV000512547] Chr15:23286571..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [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 15q11.2-13.2(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(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 copy number gain not provided [RCV000683645] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [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(chr15:23637603-28644578)x1 copy number loss not provided [RCV000683650] Chr15:23637603..28644578 [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(chr15:23286571-28823722)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(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 copy number loss not provided [RCV000683643] Chr15:23288374..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV000850106]|not provided [RCV002279564] Chr15:26943217 [GRCh38]
Chr15:27188364 [GRCh37]
Chr15:15q12
pathogenic
NM_000810.4(GABRA5):c.100C>G (p.Pro34Ala) single nucleotide variant not provided [RCV001532246] Chr15:26880859 [GRCh38]
Chr15:27126006 [GRCh37]
Chr15:15q12
uncertain significance
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 copy number loss not provided [RCV000738660] Chr15:23672782..28532120 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 copy number loss not provided [RCV000738661] Chr15:23672782..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 copy number gain not provided [RCV000738662] Chr15:23693406..29085893 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q12(chr15:27112265-27113311)x3 copy number gain not provided [RCV000738691] Chr15:27112265..27113311 [GRCh37]
Chr15:15q12
benign
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3
pathogenic
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(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 15q12(chr15:27112265-27112884)x1 copy number loss not provided [RCV000751220] Chr15:27112265..27112884 [GRCh37]
Chr15:15q12
benign
GRCh37/hg19 15q12(chr15:27112265-27113100)x3 copy number gain not provided [RCV000751221] Chr15:27112265..27113100 [GRCh37]
Chr15:15q12
benign
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
NM_000810.4(GABRA5):c.878-9C>A single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV001702127]|not provided [RCV001597653] Chr15:26943206 [GRCh38]
Chr15:27188353 [GRCh37]
Chr15:15q12
benign
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000810.4(GABRA5):c.291C>T (p.Asp97=) single nucleotide variant not provided [RCV000885089] Chr15:26883351 [GRCh38]
Chr15:27128498 [GRCh37]
Chr15:15q12
benign|likely benign
NM_000810.4(GABRA5):c.1341G>A (p.Thr447=) single nucleotide variant not provided [RCV000881550] Chr15:26948185 [GRCh38]
Chr15:27193332 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.264C>G (p.Ser88=) single nucleotide variant not provided [RCV000981251] Chr15:26883221 [GRCh38]
Chr15:27128368 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.222G>A (p.Gln74=) single nucleotide variant not provided [RCV000904746] Chr15:26883179 [GRCh38]
Chr15:27128326 [GRCh37]
Chr15:15q12
benign|likely benign
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(chr15:23810184-29213896) copy number gain 15q11q13 microduplication syndrome [RCV000767753] Chr15:23810184..29213896 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) 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
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Prader-Willi syndrome [RCV000767726] Chr15:23810184..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.610G>A (p.Val204Ile) single nucleotide variant not provided [RCV000968710] Chr15:26937214 [GRCh38]
Chr15:27182361 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.303A>T (p.Arg101=) single nucleotide variant not provided [RCV000884745] Chr15:26883363 [GRCh38]
Chr15:27128510 [GRCh37]
Chr15:15q12
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
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(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Angelman syndrome [RCV000767725] Chr15:23683783..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) 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 gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.1-13.3(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(chr15:24740574-28659911)x1 copy number loss not provided [RCV001007484] Chr15:24740574..28659911 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV000825026] Chr15:23810928..28544664 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.1191G>A (p.Thr397=) single nucleotide variant not provided [RCV000960684] Chr15:26948035 [GRCh38]
Chr15:27193182 [GRCh37]
Chr15:15q12
benign
GRCh37/hg19 15q12(chr15:26827140-27307225)x3 copy number gain not provided [RCV000849634] Chr15:26827140..27307225 [GRCh37]
Chr15:15q12
uncertain significance
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV000986170]|not provided [RCV001561246] Chr15:26943239 [GRCh38]
Chr15:27188386 [GRCh37]
Chr15:15q12
pathogenic|likely 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 15q11.2-12(chr15:23288374-27706996)x1 copy number loss not provided [RCV001006666] Chr15:23288374..27706996 [GRCh37]
Chr15:15q11.2-12
pathogenic
NM_000810.4(GABRA5):c.713G>A (p.Ser238Asn) single nucleotide variant not provided [RCV000995281] Chr15:26937317 [GRCh38]
Chr15:27182464 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV000850107] Chr15:26948082 [GRCh38]
Chr15:27193229 [GRCh37]
Chr15:15q12
pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.880G>C (p.Val294Leu) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV000850105] Chr15:26943217 [GRCh38]
Chr15:27188364 [GRCh37]
Chr15:15q12
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
NC_000015.9:g.(?_26107444)_(28230334_?)del deletion Epilepsy, childhood absence, susceptibility to, 1 [RCV003105342] Chr15:26107444..28230334 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_000810.4(GABRA5):c.871G>C (p.Val291Leu) single nucleotide variant not provided [RCV001575721] Chr15:26940071 [GRCh38]
Chr15:27185218 [GRCh37]
Chr15:15q12
likely pathogenic
NM_000810.4(GABRA5):c.606T>C (p.Val202=) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV001702038] Chr15:26937210 [GRCh38]
Chr15:27182357 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV001561680] Chr15:26869250 [GRCh38]
Chr15:27114397 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.975C>T (p.Ala325=) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV001703151]|not provided [RCV001661154] Chr15:26943312 [GRCh38]
Chr15:27188459 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.878-27T>A single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV001703311] Chr15:26943188 [GRCh38]
Chr15:27188335 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.1017C>T (p.Ala339=) single nucleotide variant not provided [RCV000883788] Chr15:26943354 [GRCh38]
Chr15:27188501 [GRCh37]
Chr15:15q12
benign|likely benign
NM_000810.4(GABRA5):c.878-5C>T single nucleotide variant not provided [RCV000959135] Chr15:26943210 [GRCh38]
Chr15:27188357 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.585G>A (p.Ala195=) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV002505332]|not provided [RCV000910313] Chr15:26937189 [GRCh38]
Chr15:27182336 [GRCh37]
Chr15:15q12
benign|likely benign
NC_000015.10:g.(?_25862297)_(26937328_?)del deletion Epilepsy, childhood absence, susceptibility to, 1 [RCV001033791] Chr15:26107444..27182475 [GRCh37]
Chr15:15q12
pathogenic
NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV002265972]|Seizure [RCV001263393] Chr15:26948010 [GRCh38]
Chr15:27193157 [GRCh37]
Chr15:15q12
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.998C>T (p.Ser333Leu) single nucleotide variant not provided [RCV001889053] Chr15:26943335 [GRCh38]
Chr15:27188482 [GRCh37]
Chr15:15q12
uncertain significance
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_000810.4(GABRA5):c.730T>C (p.Tyr244His) single nucleotide variant Autism spectrum disorder [RCV003128053] Chr15:26939930 [GRCh38]
Chr15:27185077 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.898A>G (p.Met300Val) single nucleotide variant not provided [RCV003127008] Chr15:26943235 [GRCh38]
Chr15:27188382 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.55del (p.Cys19fs) deletion not provided [RCV001773122] Chr15:26869300 [GRCh38]
Chr15:27114447 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.490A>T (p.Thr164Ser) single nucleotide variant not provided [RCV001769066] Chr15:26883550 [GRCh38]
Chr15:27128697 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.1089G>C (p.Lys363Asn) single nucleotide variant not provided [RCV001765185] Chr15:26943426 [GRCh38]
Chr15:27188573 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.86+1G>A single nucleotide variant not specified [RCV001797893] Chr15:26869335 [GRCh38]
Chr15:27114482 [GRCh37]
Chr15:15q12
uncertain significance
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
NM_000810.4(GABRA5):c.621C>T (p.Asn207=) single nucleotide variant not provided [RCV001815774] Chr15:26937225 [GRCh38]
Chr15:27182372 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.1058G>T (p.Gly353Val) single nucleotide variant not provided [RCV001814876] Chr15:26943395 [GRCh38]
Chr15:27188542 [GRCh37]
Chr15:15q12
uncertain significance
NC_000015.9:g.(?_26792940)_(28544682_?)dup duplication Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
uncertain significance|no classifications from unflagged records
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NC_000015.9:g.(?_26792940)_(28544682_?)del deletion not provided [RCV001972406] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_000810.4(GABRA5):c.725-520G>A single nucleotide variant not provided [RCV002211288] Chr15:26939405 [GRCh38]
Chr15:27184552 [GRCh37]
Chr15:15q12
benign|likely benign
NM_000810.4(GABRA5):c.990C>T (p.Phe330=) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV003130966] Chr15:26943327 [GRCh38]
Chr15:27188474 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.394G>T (p.Asp132Tyr) single nucleotide variant not provided [RCV002279061] Chr15:26883454 [GRCh38]
Chr15:27128601 [GRCh37]
Chr15:15q12
uncertain significance
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000810.4(GABRA5):c.1204T>G (p.Ser402Ala) single nucleotide variant Inborn genetic diseases [RCV003339943]|not provided [RCV002262456] Chr15:26948048 [GRCh38]
Chr15:27193195 [GRCh37]
Chr15:15q12
benign|likely benign
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 15q11.2-13.1(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.725-584T>C single nucleotide variant not provided [RCV002262455] Chr15:26939341 [GRCh38]
Chr15:27184488 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV002272577]|not provided [RCV002260729] Chr15:26943239 [GRCh38]
Chr15:27188386 [GRCh37]
Chr15:15q12
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) copy number loss Angelman syndrome [RCV002280759] Chr15:23285775..30386399 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 copy number loss See cases [RCV002286346] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.497+8842_497+8896del deletion Schizophrenia [RCV002463517] Chr15:26892395..26892449 [GRCh38]
Chr15:27137542..27137596 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.72A>T (p.Leu24Phe) single nucleotide variant not provided [RCV002474018] Chr15:26869320 [GRCh38]
Chr15:27114467 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.461G>A (p.Arg154Gln) single nucleotide variant not provided [RCV002474032] Chr15:26883521 [GRCh38]
Chr15:27128668 [GRCh37]
Chr15:15q12
uncertain significance
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
NM_000810.4(GABRA5):c.117A>T (p.Lys39Asn) single nucleotide variant not provided [RCV002467285] Chr15:26880876 [GRCh38]
Chr15:27126023 [GRCh37]
Chr15:15q12
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.847C>T (p.Arg283Trp) single nucleotide variant not provided [RCV002467322] Chr15:26940047 [GRCh38]
Chr15:27185194 [GRCh37]
Chr15:15q12
uncertain significance
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_000810.4(GABRA5):c.436A>G (p.Met146Val) single nucleotide variant not provided [RCV002301040] Chr15:26883496 [GRCh38]
Chr15:27128643 [GRCh37]
Chr15:15q12
uncertain significance
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(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.220C>A (p.Gln74Lys) single nucleotide variant Inborn genetic diseases [RCV002992594] Chr15:26883177 [GRCh38]
Chr15:27128324 [GRCh37]
Chr15:15q12
likely benign
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_000810.4(GABRA5):c.180C>G (p.Tyr60Ter) single nucleotide variant Inborn genetic diseases [RCV002846024] Chr15:26880939 [GRCh38]
Chr15:27126086 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.101C>T (p.Pro34Leu) single nucleotide variant Inborn genetic diseases [RCV002803905] Chr15:26880860 [GRCh38]
Chr15:27126007 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.221A>G (p.Gln74Arg) single nucleotide variant Inborn genetic diseases [RCV002702921] Chr15:26883178 [GRCh38]
Chr15:27128325 [GRCh37]
Chr15:15q12
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_000810.4(GABRA5):c.74C>G (p.Ser25Cys) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV003135307] Chr15:26869322 [GRCh38]
Chr15:27114469 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.983_988del (p.Tyr328_Ala329del) deletion Developmental and epileptic encephalopathy, 79 [RCV003135308] Chr15:26943318..26943323 [GRCh38]
Chr15:27188465..27188470 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.1186G>T (p.Gly396Trp) single nucleotide variant Inborn genetic diseases [RCV003220202] Chr15:26948030 [GRCh38]
Chr15:27193177 [GRCh37]
Chr15:15q12
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000810.4(GABRA5):c.474C>T (p.Asp158=) single nucleotide variant not provided [RCV003326903] Chr15:26883534 [GRCh38]
Chr15:27128681 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.693G>A (p.Thr231=) single nucleotide variant not provided [RCV003326904] Chr15:26937297 [GRCh38]
Chr15:27182444 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.313A>G (p.Lys105Glu) single nucleotide variant Developmental and epileptic encephalopathy, 79 [RCV003338099] Chr15:26883373 [GRCh38]
Chr15:27128520 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.475G>C (p.Gly159Arg) single nucleotide variant Inborn genetic diseases [RCV003347358] Chr15:26883535 [GRCh38]
Chr15:27128682 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.209-7C>G single nucleotide variant not provided [RCV003393669] Chr15:26883159 [GRCh38]
Chr15:27128306 [GRCh37]
Chr15:15q12
benign
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
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
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000810.4(GABRA5):c.228G>A (p.Arg76=) single nucleotide variant not provided [RCV003393670] Chr15:26883185 [GRCh38]
Chr15:27128332 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.757C>G (p.Leu253Val) single nucleotide variant not provided [RCV003443703] Chr15:26939957 [GRCh38]
Chr15:27185104 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.1155C>T (p.Pro385=) single nucleotide variant not provided [RCV003390465] Chr15:26947999 [GRCh38]
Chr15:27193146 [GRCh37]
Chr15:15q12
benign
NM_000810.4(GABRA5):c.1299C>T (p.Phe433=) single nucleotide variant not provided [RCV003390466] Chr15:26948143 [GRCh38]
Chr15:27193290 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.725-672C>T single nucleotide variant not provided [RCV003393673] Chr15:26939253 [GRCh38]
Chr15:27184400 [GRCh37]
Chr15:15q12
uncertain significance
NM_000810.4(GABRA5):c.369C>T (p.Leu123=) single nucleotide variant not provided [RCV003393671] Chr15:26883429 [GRCh38]
Chr15:27128576 [GRCh37]
Chr15:15q12
likely benign
NM_000810.4(GABRA5):c.472G>T (p.Asp158Tyr) single nucleotide variant not provided [RCV003393672] Chr15:26883532 [GRCh38]
Chr15:27128679 [GRCh37]
Chr15:15q12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2684
Count of miRNA genes:964
Interacting mature miRNAs:1150
Transcripts:ENST00000335625, ENST00000355395, ENST00000400081, ENST00000554038, ENST00000554083, ENST00000554596, ENST00000554599, ENST00000555060, ENST00000555182, ENST00000557449, ENST00000557484
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-L08485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371527,193,442 - 27,193,565UniSTSGRCh37
Build 361524,776,188 - 24,776,311RGDNCBI36
Celera155,354,625 - 5,354,748RGD
Cytogenetic Map15q12UniSTS
HuRef155,321,459 - 5,321,582UniSTS
GeneMap99-GB4 RH Map1537.1UniSTS
GABRA5_652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371527,193,244 - 27,194,126UniSTSGRCh37
Build 361524,775,990 - 24,776,872RGDNCBI36
Celera155,354,427 - 5,355,309RGD
HuRef155,321,261 - 5,322,143UniSTS
D15S1192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371527,193,546 - 27,193,654UniSTSGRCh37
Build 361524,776,292 - 24,776,400RGDNCBI36
Celera155,354,729 - 5,354,837RGD
Cytogenetic Map15q12UniSTS
HuRef155,321,563 - 5,321,671UniSTS
GeneMap99-GB4 RH Map1538.85UniSTS
Whitehead-RH Map1522.3UniSTS
Whitehead-YAC Contig Map15 UniSTS


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 adipose tissue appendage
High
Medium 362 2 9 1 161 359 1430 9 28 1
Low 678 101 175 32 32 33 73 528 896 33 408 104 1 3 14
Below cutoff 831 1456 1018 236 628 169 2195 699 1137 137 611 853 68 476 1526

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A28104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009830 (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
  DA157081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB506215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU606048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW585336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R49008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000335625   ⟹   ENSP00000335592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,062 - 26,949,208 (+)Ensembl
RefSeq Acc Id: ENST00000355395   ⟹   ENSP00000347557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,866,911 - 26,948,752 (+)Ensembl
RefSeq Acc Id: ENST00000400081   ⟹   ENSP00000382953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,126 - 26,949,207 (+)Ensembl
RefSeq Acc Id: ENST00000554038   ⟹   ENSP00000451527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,163 - 26,883,215 (+)Ensembl
RefSeq Acc Id: ENST00000554083   ⟹   ENSP00000450529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,880,543 - 26,883,413 (+)Ensembl
RefSeq Acc Id: ENST00000554596   ⟹   ENSP00000450806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,242 - 26,883,506 (+)Ensembl
RefSeq Acc Id: ENST00000554599   ⟹   ENSP00000450717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,868,715 - 26,883,557 (+)Ensembl
RefSeq Acc Id: ENST00000555060   ⟹   ENSP00000450932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,829 - 26,869,296 (+)Ensembl
RefSeq Acc Id: ENST00000555182   ⟹   ENSP00000450653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,072 - 26,937,199 (+)Ensembl
RefSeq Acc Id: ENST00000557449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,245 - 26,914,850 (+)Ensembl
RefSeq Acc Id: ENST00000557484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1526,867,120 - 26,877,684 (+)Ensembl
RefSeq Acc Id: NM_000810   ⟹   NP_000801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,062 - 26,949,208 (+)NCBI
GRCh371527,111,866 - 27,194,357 (+)ENTREZGENE
Build 361524,742,696 - 24,776,749 (+)NCBI Archive
HuRef155,288,011 - 5,322,374 (+)ENTREZGENE
HuRef155,241,009 - 5,262,207 (+)NCBI
CHM1_11527,061,401 - 27,143,890 (+)NCBI
T2T-CHM13v2.01524,608,094 - 24,690,792 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001165037   ⟹   NP_001158509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,866,719 - 26,949,208 (+)NCBI
GRCh371527,111,866 - 27,194,357 (+)ENTREZGENE
HuRef155,288,011 - 5,322,374 (+)ENTREZGENE
HuRef155,241,009 - 5,262,207 (+)NCBI
CHM1_11527,061,808 - 27,143,890 (+)NCBI
T2T-CHM13v2.01524,607,751 - 24,690,792 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268258   ⟹   XP_005268315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,815 - 26,949,208 (+)NCBI
GRCh371527,111,866 - 27,194,357 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720459   ⟹   XP_006720522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,159 - 26,949,208 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022055   ⟹   XP_016877544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,866,719 - 26,949,208 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022056   ⟹   XP_016877545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,163 - 26,949,208 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432338   ⟹   XP_047288294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,062 - 26,949,208 (+)NCBI
RefSeq Acc Id: XM_047432339   ⟹   XP_047288295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,815 - 26,949,208 (+)NCBI
RefSeq Acc Id: XM_054377662   ⟹   XP_054233637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,608,191 - 24,690,792 (+)NCBI
RefSeq Acc Id: XM_054377663   ⟹   XP_054233638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,608,816 - 24,690,792 (+)NCBI
RefSeq Acc Id: XM_054377664   ⟹   XP_054233639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,608,094 - 24,690,783 (+)NCBI
RefSeq Acc Id: XM_054377665   ⟹   XP_054233640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,607,751 - 24,690,783 (+)NCBI
RefSeq Acc Id: XM_054377666   ⟹   XP_054233641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,608,877 - 24,690,783 (+)NCBI
RefSeq Acc Id: XM_054377667   ⟹   XP_054233642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01524,608,195 - 24,690,783 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158509 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268315 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720522 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877544 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233642 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58490 (Get FASTA)   NCBI Sequence Viewer  
  AAC31809 (Get FASTA)   NCBI Sequence Viewer  
  AAF62508 (Get FASTA)   NCBI Sequence Viewer  
  AAI11980 (Get FASTA)   NCBI Sequence Viewer  
  AAI13423 (Get FASTA)   NCBI Sequence Viewer  
  AAP88832 (Get FASTA)   NCBI Sequence Viewer  
  BAF83142 (Get FASTA)   NCBI Sequence Viewer  
  BAG57584 (Get FASTA)   NCBI Sequence Viewer  
  BAG64714 (Get FASTA)   NCBI Sequence Viewer  
  CAA01920 (Get FASTA)   NCBI Sequence Viewer  
  EAW57656 (Get FASTA)   NCBI Sequence Viewer  
  EAW57657 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000335592
  ENSP00000335592.5
  ENSP00000347557.5
  ENSP00000382953
  ENSP00000382953.3
  ENSP00000450529.1
  ENSP00000450653.1
  ENSP00000450717.1
  ENSP00000450806.1
  ENSP00000450932.1
  ENSP00000451527.1
GenBank Protein P31644 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000801   ⟸   NM_000810
- Peptide Label: precursor
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158509   ⟸   NM_001165037
- Peptide Label: precursor
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005268315   ⟸   XM_005268258
- Peptide Label: isoform X1
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720522   ⟸   XM_006720459
- Peptide Label: isoform X1
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877544   ⟸   XM_017022055
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016877545   ⟸   XM_017022056
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000450653   ⟸   ENST00000555182
RefSeq Acc Id: ENSP00000450932   ⟸   ENST00000555060
RefSeq Acc Id: ENSP00000382953   ⟸   ENST00000400081
RefSeq Acc Id: ENSP00000335592   ⟸   ENST00000335625
RefSeq Acc Id: ENSP00000347557   ⟸   ENST00000355395
RefSeq Acc Id: ENSP00000450717   ⟸   ENST00000554599
RefSeq Acc Id: ENSP00000450806   ⟸   ENST00000554596
RefSeq Acc Id: ENSP00000451527   ⟸   ENST00000554038
RefSeq Acc Id: ENSP00000450529   ⟸   ENST00000554083
RefSeq Acc Id: XP_047288294   ⟸   XM_047432338
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288295   ⟸   XM_047432339
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233640   ⟸   XM_054377665
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233639   ⟸   XM_054377664
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233637   ⟸   XM_054377662
- Peptide Label: isoform X1
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233642   ⟸   XM_054377667
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233638   ⟸   XM_054377663
- Peptide Label: isoform X1
- UniProtKB: Q9NYT4 (UniProtKB/Swiss-Prot),   Q9NYT3 (UniProtKB/Swiss-Prot),   Q53XL6 (UniProtKB/Swiss-Prot),   Q14DC2 (UniProtKB/Swiss-Prot),   P31644 (UniProtKB/Swiss-Prot),   A8K338 (UniProtKB/Swiss-Prot),   Q9NYT5 (UniProtKB/Swiss-Prot),   B4DFX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233641   ⟸   XM_054377666
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31644-F1-model_v2 AlphaFold P31644 1-462 view protein structure

Promoters
RGD ID:7228871
Promoter ID:EPDNEW_H20182
Type:initiation region
Name:GABRA5_1
Description:gamma-aminobutyric acid type A receptor alpha5 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381526,867,085 - 26,867,145EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4079 AgrOrtholog
COSMIC GABRA5 COSMIC
Ensembl Genes ENSG00000186297 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335625 ENTREZGENE
  ENST00000335625.10 UniProtKB/Swiss-Prot
  ENST00000355395.9 UniProtKB/Swiss-Prot
  ENST00000400081 ENTREZGENE
  ENST00000400081.7 UniProtKB/Swiss-Prot
  ENST00000554038.5 UniProtKB/TrEMBL
  ENST00000554083.1 UniProtKB/TrEMBL
  ENST00000554596.5 UniProtKB/TrEMBL
  ENST00000554599.5 UniProtKB/TrEMBL
  ENST00000555060.1 UniProtKB/TrEMBL
  ENST00000555182.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186297 GTEx
HGNC ID HGNC:4079 ENTREZGENE
Human Proteome Map GABRA5 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAAa_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABBAa5_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gabra-1-6_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2558 UniProtKB/Swiss-Prot
NCBI Gene 2558 ENTREZGENE
OMIM 137142 OMIM
PANTHER GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT ALPHA-5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28493 PharmGKB
PRINTS GABAARALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAARALPHA5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAARECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K338 ENTREZGENE
  B4DFX3 ENTREZGENE, UniProtKB/TrEMBL
  B4E1A2_HUMAN UniProtKB/TrEMBL
  G3V296_HUMAN UniProtKB/TrEMBL
  G3V2G8_HUMAN UniProtKB/TrEMBL
  G3V2K2_HUMAN UniProtKB/TrEMBL
  G3V2Q9_HUMAN UniProtKB/TrEMBL
  G3V2Y5_HUMAN UniProtKB/TrEMBL
  G3V408_HUMAN UniProtKB/TrEMBL
  GBRA5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14DC2 ENTREZGENE
  Q53XL6 ENTREZGENE
  Q9NYT3 ENTREZGENE
  Q9NYT4 ENTREZGENE
  Q9NYT5 ENTREZGENE
UniProt Secondary A8K338 UniProtKB/Swiss-Prot
  Q14DC2 UniProtKB/Swiss-Prot
  Q53XL6 UniProtKB/Swiss-Prot
  Q9NYT3 UniProtKB/Swiss-Prot
  Q9NYT4 UniProtKB/Swiss-Prot
  Q9NYT5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 GABRA5  gamma-aminobutyric acid type A receptor subunit alpha5  GABRA5  gamma-aminobutyric acid type A receptor alpha5 subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 GABRA5  gamma-aminobutyric acid type A receptor alpha5 subunit  GABRA5  gamma-aminobutyric acid (GABA) A receptor, alpha 5  Symbol and/or name change 5135510 APPROVED