LOC128899998 (KLF13-II enhancer) - Rat Genome Database

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Gene: LOC128899998 (KLF13-II enhancer) Homo sapiens
Analyze
Symbol: LOC128899998
Name: KLF13-II enhancer
RGD ID: 163256419
Description: This genomic region was identified as a DNase I hypersensitive site (DHS) in erythroid cells. It was validated as an enhancer that can activate the minP minimal promoter by reporter assays in K562 erythroleukemia cells. [provided by RefSeq, Mar 2023]
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
GRCh381531,298,793 - 31,299,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371531,590,996 - 31,591,311 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01529,092,912 - 29,093,227 (+)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:23985037  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000148165] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000148179] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
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 15q13.2-13.3(chr15:30361674-32630901)x1 copy number loss See cases [RCV000051585] Chr15:30361674..32630901 [GRCh38]
Chr15:30653877..32923102 [GRCh37]
Chr15:28441169..30710394 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3 copy number gain See cases [RCV000051351] Chr15:30640878..32222779 [GRCh38]
Chr15:30933081..32514980 [GRCh37]
Chr15:28720373..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000148196] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3 copy number gain See cases [RCV000051332] Chr15:28918473..32606466 [GRCh38]
Chr15:29210676..32898667 [GRCh37]
Chr15:26997968..30685959 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3 copy number gain See cases [RCV000051334] Chr15:30109224..32149250 [GRCh38]
Chr15:30401427..32441451 [GRCh37]
Chr15:28188719..30228743 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3 copy number gain See cases [RCV000051336] Chr15:30361674..32343758 [GRCh38]
Chr15:30653877..32635959 [GRCh37]
Chr15:28441169..30423251 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1 copy number loss See cases [RCV000052464] Chr15:30750713..32217725 [GRCh38]
Chr15:31042916..32509926 [GRCh37]
Chr15:28830208..30297218 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30361674-31317476)x1 copy number loss See cases [RCV000052430] Chr15:30361674..31317476 [GRCh38]
Chr15:30653877..31609679 [GRCh37]
Chr15:28441169..29396971 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_30568981)_(32151126_?)del deletion Autism [RCV000754163] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
Single allele deletion Chromosome 15q13.3 microdeletion syndrome [RCV002280355] Chr15:30626003..32111997 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1 copy number loss See cases [RCV000052412] Chr15:28918473..32149250 [GRCh38]
Chr15:29210676..32441451 [GRCh37]
Chr15:26997968..30228743 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 copy number loss See cases [RCV000052426] Chr15:30109224..32606466 [GRCh38]
Chr15:30401427..32898667 [GRCh37]
Chr15:28188719..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000050599] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000050441] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1 copy number loss See cases [RCV000052455] Chr15:30614351..32606466 [GRCh38]
Chr15:30906554..32898667 [GRCh37]
Chr15:28693846..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1 copy number loss See cases [RCV000052458] Chr15:30634533..32121422 [GRCh38]
Chr15:30926736..32413623 [GRCh37]
Chr15:28714028..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1 copy number loss See cases [RCV000052431] Chr15:30361674..32326182 [GRCh38]
Chr15:30653877..32618383 [GRCh37]
Chr15:28441169..30405675 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 copy number loss See cases [RCV000052433] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1 copy number loss See cases [RCV000136622] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1 copy number loss See cases [RCV000137266] Chr15:30361674..32621998 [GRCh38]
Chr15:30653877..32914199 [GRCh37]
Chr15:28441169..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1 copy number loss See cases [RCV000052452] Chr15:30527262..32343758 [GRCh38]
Chr15:30819465..32635959 [GRCh37]
Chr15:28606757..30423251 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1 copy number loss See cases [RCV000052453] Chr15:30592358..32121422 [GRCh38]
Chr15:30884561..32413623 [GRCh37]
Chr15:28671853..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1 copy number loss See cases [RCV000052465] Chr15:30822844..32149250 [GRCh38]
Chr15:31115047..32441451 [GRCh37]
Chr15:28902339..30228743 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1 copy number loss See cases [RCV000052481] Chr15:30822844..32606466 [GRCh38]
Chr15:31115047..32898667 [GRCh37]
Chr15:28902339..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30568981)_(32318632_?)del deletion Autism [RCV000754165] Chr15:30568981..32318632 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30325774)_(32194551_?)del deletion Schizophrenia [RCV000754161] Chr15:30325774..32194551 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754162] Chr15:30506022..32161746 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754164] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3 copy number gain See cases [RCV000135330] Chr15:30797731..32150818 [GRCh38]
Chr15:31089934..32443019 [GRCh37]
Chr15:28877226..30230311 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30361656-32150923)x3 copy number gain See cases [RCV000135974] Chr15:30361656..32150923 [GRCh38]
Chr15:30653859..32443124 [GRCh37]
Chr15:28441151..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000050899] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
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 15q13.1-13.3(chr15:28314197-32343758)x1 copy number loss See cases [RCV000050564] Chr15:28314197..32343758 [GRCh38]
Chr15:28579796..32635959 [GRCh37]
Chr15:26232938..30423251 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1 copy number loss See cases [RCV000141482] Chr15:30217122..32607357 [GRCh38]
Chr15:30509325..32899558 [GRCh37]
Chr15:28296617..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1 copy number loss See cases [RCV000141477] Chr15:30217122..32217725 [GRCh38]
Chr15:30509325..32509926 [GRCh37]
Chr15:28296617..30297218 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30361674-32222779)x3 copy number gain See cases [RCV000135725] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3 copy number gain See cases [RCV000140689] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1 copy number loss See cases [RCV000140690] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1 copy number loss See cases [RCV000138247] Chr15:30629714..32621998 [GRCh38]
Chr15:30921917..32914199 [GRCh37]
Chr15:28709209..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3 copy number gain See cases [RCV000140616] Chr15:30969632..31317417 [GRCh38]
Chr15:31261835..31609620 [GRCh37]
Chr15:29049127..29396912 [NCBI36]
Chr15:15q13.3		 benign
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3 copy number gain See cases [RCV000141654] Chr15:30094195..32151843 [GRCh38]
Chr15:30386398..32444044 [GRCh37]
Chr15:28173690..30231336 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3 copy number gain See cases [RCV000138283] Chr15:28744504..32275124 [GRCh38]
Chr15:28989650..32567325 [GRCh37]
Chr15:26788691..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1 copy number loss See cases [RCV000141147] Chr15:30797731..32170441 [GRCh38]
Chr15:31089934..32462642 [GRCh37]
Chr15:28877226..30249934 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1 copy number loss See cases [RCV000135446] Chr15:30750713..32607357 [GRCh38]
Chr15:31042916..32899558 [GRCh37]
Chr15:28830208..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1 copy number loss See cases [RCV000139327] Chr15:30662521..32569411 [GRCh38]
Chr15:30954724..32861612 [GRCh37]
Chr15:28742016..30648904 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1 copy number loss See cases [RCV000139322] Chr15:30662521..32150923 [GRCh38]
Chr15:30954724..32443124 [GRCh37]
Chr15:28742016..30230416 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30361674-32607357)x1 copy number loss See cases [RCV000050900] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1 copy number loss See cases [RCV000134823] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000050375] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 copy number loss See cases [RCV000050376] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000050442] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3 copy number gain See cases [RCV000135452] Chr15:30438310..32607357 [GRCh38]
Chr15:30730513..32899558 [GRCh37]
Chr15:28517805..30686850 [NCBI36]
Chr15:15q13.2-13.3		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3 copy number gain See cases [RCV000137535] Chr15:30629714..32326182 [GRCh38]
Chr15:30921917..32618383 [GRCh37]
Chr15:28709209..30405675 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3 copy number gain See cases [RCV000137254] Chr15:30361674..32414682 [GRCh38]
Chr15:30653877..32706883 [GRCh37]
Chr15:28441169..30494175 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1 copy number loss See cases [RCV000139417] Chr15:28744504..32222779 [GRCh38]
Chr15:28989650..32514980 [GRCh37]
Chr15:26788691..30302272 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3 copy number gain See cases [RCV000134822] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1 copy number loss See cases [RCV000050511] Chr15:30438310..32217725 [GRCh38]
Chr15:30730513..32509926 [GRCh37]
Chr15:28517805..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3 copy number gain See cases [RCV000138268] Chr15:28730988..32275124 [GRCh38]
Chr15:28976134..32567325 [GRCh37]
Chr15:26775175..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1 copy number loss See cases [RCV000050609] Chr15:30662523..32607357 [GRCh38]
Chr15:30954726..32899558 [GRCh37]
Chr15:28742018..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3 copy number gain See cases [RCV000137855] Chr15:30527262..32621998 [GRCh38]
Chr15:30819465..32914199 [GRCh37]
Chr15:28606757..30701491 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
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 15q13.1-13.3(chr15:28961114-32343758)x3 copy number gain See cases [RCV000133742] Chr15:28961114..32343758 [GRCh38]
Chr15:29253317..32635959 [GRCh37]
Chr15:27040609..30423251 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
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 15q13.2-13.3(chr15:30291263-32217725)x3 copy number gain See cases [RCV000136965] Chr15:30291263..32217725 [GRCh38]
Chr15:30583466..32509926 [GRCh37]
Chr15:28370758..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3 copy number gain See cases [RCV000139177] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1 copy number loss See cases [RCV000139178] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3 copy number gain See cases [RCV000135791] Chr15:30361674..31572487 [GRCh38]
Chr15:30653877..31864690 [GRCh37]
Chr15:28441169..29651982 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3 copy number gain See cases [RCV000142809] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1 copy number loss See cases [RCV000142300] Chr15:30781532..32154629 [GRCh38]
Chr15:31073735..32446830 [GRCh37]
Chr15:28861027..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3 copy number gain See cases [RCV000142144] Chr15:30621371..32151912 [GRCh38]
Chr15:30913574..32444113 [GRCh37]
Chr15:28700866..30231405 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3 copy number gain See cases [RCV000142184] Chr15:30621371..32147323 [GRCh38]
Chr15:30913574..32439524 [GRCh37]
Chr15:28700866..30226816 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
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 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000148065] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1 copy number loss See cases [RCV000142808] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 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 15q13.2-13.3(chr15:30629714-32569425)x3 copy number gain See cases [RCV000142792] Chr15:30629714..32569425 [GRCh38]
Chr15:30921917..32861626 [GRCh37]
Chr15:28709209..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000148066] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 copy number loss See cases [RCV000143262] Chr15:30629714..32275124 [GRCh38]
Chr15:30921917..32567325 [GRCh37]
Chr15:28709209..30354617 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3 copy number gain See cases [RCV000143499] Chr15:30781466..32154629 [GRCh38]
Chr15:31073669..32446830 [GRCh37]
Chr15:28860961..30234122 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1 copy number loss See cases [RCV000143747] Chr15:30781465..32154629 [GRCh38]
Chr15:31073668..32446830 [GRCh37]
Chr15:28860960..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743) copy number gain Anomalous pulmonary venous return [RCV003223577] Chr15:30866083..32146743 [GRCh38]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3 copy number gain See cases [RCV000142669] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
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

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 LOC128899998 COSMIC
GTEx LOC128899998 GTEx
Human Proteome Map LOC128899998 Human Proteome Map
NCBI Gene LOC128899998 ENTREZGENE