LOC126862083 (MED14-independent group 3 enhancer GRCh37_chr15:27939287-27940486) - Rat Genome Database

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Gene: LOC126862083 (MED14-independent group 3 enhancer GRCh37_chr15:27939287-27940486) Homo sapiens
Analyze
Symbol: LOC126862083
Name: MED14-independent group 3 enhancer GRCh37_chr15:27939287-27940486
RGD ID: 155227031
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381527,694,141 - 27,695,340 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01525,436,575 - 25,437,772 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:35650434  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000148194] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.3(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(chr15:23411789-28275167)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(chr15:23319714-28275167)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(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)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(chr15:23319714-28681287)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(chr15:23450287-28446314)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(chr15:22030646-28694952)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(chr15:23319714-28190742)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 15q11.1-13.1(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(chr15:19905469-28163751)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 15q11.2-13.1(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(chr15:22358243-28481444)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 15q11.1-13.3(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 15q11.1-13.1(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
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
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(chr15:23375083-28272443)x1 copy number loss See cases [RCV000052376] Chr15:23375083..28272443 [GRCh38]
Chr15:23620230..28517589 [GRCh37]
Chr15:21171671..26191184 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 copy number loss See cases [RCV000052350] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)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(chr15:23398620-28190742)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(chr15:23398620-28446314)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(chr15:23537429-28269468)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(chr15:23411789-28275167)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(chr15:23462288-28314291)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
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
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(chr15:23319714-28347620)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(chr15:23411789-28314256)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(chr15:22358243-28481444)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 15q11.1-13.1(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 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)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(chr15:23537429-28275167)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 15q11.2-13.2(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(chr15:23319714-28446314)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(chr15:23319714-30361733)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(chr15:23337069-28272443)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(chr15:23319714-28275167)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(chr15:23398620-28190742)x1 copy number loss See cases [RCV000052379] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.2(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
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
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(chr15:23411789-28281294)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(chr15:23320410-28460005)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
NC_000015.10:g.(?_22786657)_(28299516_?)dup duplication 15q11q13 microduplication syndrome [RCV004584574] Chr15:22786657..28299516 [GRCh38]
Chr15:15q11.2-13.1		 likely 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 15q11.2-14(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(chr15:22358243-28481444)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(chr15:23319714-28314256)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(chr15:22358243-28481444)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 15q11.2-13.2(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 15q11.2-13.1(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(chr15:23328044-28638603)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(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)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(chr15:23999707-28314256)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(chr15:22358243-28481444)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(chr15:23319714-32607357)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 15q11.2-13.2(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(chr15:22358243-28481444)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(chr15:23328044-28300209)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(chr15:23462305-28314256)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(chr15:23462305-28694952)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(chr15:23410917-28446301)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(chr15:22358243-28481444)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(chr15:22358243-28481444)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(chr15:23328044-28578576)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(chr15:23328044-28836775)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(chr15:21581401-28332641)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(chr15:23370622-28414892)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(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)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(chr15:23319714-28446314)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(chr15:23319714-32217731)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(chr15:23319714-32384654)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(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)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(chr15:23319714-28275170)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(chr15:22358243-28481444)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(chr15:23410917-28275170)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(chr15:23411789-28280314)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 15q11.2-13.1(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(chr15:23319714-28280314)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(chr15:23462288-28694922)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(chr15:23462305-28275167)x3 copy number gain See cases [RCV000135505] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)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(chr15:23319714-31175232)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(chr15:23411789-28275167)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(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)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(chr15:23523934-28280314)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(chr15:23319714-28446301)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(chr15:23319714-28275167)x3 copy number gain See cases [RCV000135506] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)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(chr15:23319714-30073921)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(chr15:23462288-28275170)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 15q11.2-13.2(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(chr15:23375044-28300358)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(chr15:23370621-28578576)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(chr15:23328044-28683584)x4 copy number gain See cases [RCV000143291] Chr15:23328044..28683584 [GRCh38]
Chr15:22770421..28928730 [GRCh37]
Chr15:20321785..26727771 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)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(chr15:23444168-28277347)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(chr15:23422864-28460005)x1 copy number loss See cases [RCV000143185] Chr15:23422864..28460005 [GRCh38]
Chr15:23668011..28801348 [GRCh37]
Chr15:21219452..26600389 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 copy number loss See cases [RCV000143226] Chr15:23328044..30023809 [GRCh38]
Chr15:22770422..30316012 [GRCh37]
Chr15:20321786..28103304 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)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(chr15:22358243-28481444)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 15q11.2-13.1(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(chr15:23328044-28713633)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(chr15:23422864-28446314)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 15q11.2-13.2(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 15q11.2-13.3(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(chr15:23328044-28294829)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(chr15:23328044-28478308)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(chr15:23370622-28300209)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(chr15:23328044-28315951)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(chr15:22358243-28481444)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(chr15:23398620-28280314)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(chr15:23370621-28414765)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(chr15:23328044-28300358)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(chr15:23319714-30527306)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
NC_000015.10:g.(?_23319714)_(28314256_?)del deletion Angelman syndrome [RCV003885337] Chr15:23319714..28314256 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699) copy number gain 15q11q13 microduplication syndrome [RCV003985067] Chr15:22612582..29993699 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4 copy number gain 15q11q13 microduplication syndrome [RCV003985068] Chr15:22612582..28435882 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
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(chr15:23454554-28280314)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 15q11.2-14(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(chr15:23319714-28314256)x3 copy number gain See cases [RCV000137099] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28557186 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 copy number gain See cases [RCV000137100] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(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(chr15:23462105-28290061)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(chr15:22358243-28481444)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(chr15:23370622-28389912)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

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862083 COSMIC
GTEx LOC126862083 GTEx
Human Proteome Map LOC126862083 Human Proteome Map
NCBI Gene LOC126862083 ENTREZGENE