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GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000052015.4

Allele description

GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1

Genes:
  • LOC108281186:AJAP1-NPHP4 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
  • ANKRD65-AS1:ANKRD65 antisense RNA 1 [Gene - HGNC]
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • LOC110599576:CEB15 minisatellite repeat instability region [Gene]
  • LOC115801415:CRISPRi-validated cis-regulatory element chr1.97 [Gene]
  • DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
  • FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • GNB1-DT:GNB1 divergent transcript [Gene - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • LOC108281140:MEGF6 intron CAGE-defined mid-level expression enhancer [Gene]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MMEL1-AS1:MMEL1 antisense RNA 1 [Gene - HGNC]
  • MORN1:MORN repeat containing 1 [Gene - HGNC]
  • MRPL20-AS1:MRPL20 antisense RNA 1 [Gene - HGNC]
  • MRPL20-DT:MRPL20 divergent transcript [Gene - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
  • PERM1:PPARGC1 and ESRR induced regulator, muscle 1 [Gene - OMIM - HGNC]
  • PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
  • PRDM16-DT:PRDM16 divergent transcript [Gene - HGNC]
  • PRKCZ-AS1:PRKCZ antisense RNA 1 [Gene - HGNC]
  • PRKCZ-DT:PRKCZ divergent transcript [Gene - HGNC]
  • ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
  • SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • LOC121967052:Sharpr-MPRA regulatory region 10388 [Gene]
  • LOC121967045:Sharpr-MPRA regulatory region 10763 [Gene]
  • LOC112577578:Sharpr-MPRA regulatory region 1148 [Gene]
  • LOC121967050:Sharpr-MPRA regulatory region 11692 [Gene]
  • LOC112577579:Sharpr-MPRA regulatory region 11957 [Gene]
  • LOC121967048:Sharpr-MPRA regulatory region 11961 [Gene]
  • LOC112577524:Sharpr-MPRA regulatory region 12294 [Gene]
  • LOC121967054:Sharpr-MPRA regulatory region 13064 [Gene]
  • LOC112577469:Sharpr-MPRA regulatory region 13538 [Gene]
  • LOC121677383:Sharpr-MPRA regulatory region 13638 [Gene]
  • LOC112577525:Sharpr-MPRA regulatory region 13804 [Gene]
  • LOC121967046:Sharpr-MPRA regulatory region 14484 [Gene]
  • LOC121677382:Sharpr-MPRA regulatory region 15043 [Gene]
  • LOC121967053:Sharpr-MPRA regulatory region 1516 [Gene]
  • LOC121967051:Sharpr-MPRA regulatory region 15700 [Gene]
  • LOC121967044:Sharpr-MPRA regulatory region 185 [Gene]
  • LOC112577581:Sharpr-MPRA regulatory region 1968 [Gene]
  • LOC120851201:Sharpr-MPRA regulatory region 1987 [Gene]
  • LOC121967049:Sharpr-MPRA regulatory region 2016 [Gene]
  • LOC121967042:Sharpr-MPRA regulatory region 3626 [Gene]
  • LOC121967047:Sharpr-MPRA regulatory region 3728 [Gene]
  • LOC121677384:Sharpr-MPRA regulatory region 4254 [Gene]
  • LOC121967043:Sharpr-MPRA regulatory region 8235 [Gene]
  • LOC121967055:Sharpr-MPRA regulatory region 8508 [Gene]
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • TNFRSF14-AS1:TNFRSF14 antisense RNA 1 [Gene - HGNC]
  • TP73-AS1:TP73 antisense RNA 1 [Gene - HGNC]
  • TP73-AS3:TP73 antisense RNA 3 [Gene - HGNC]
  • TTLL10-AS1:TTLL10 antisense RNA 1 [Gene - HGNC]
  • LOC110121223:VISTA enhancer hs1912 [Gene]
  • LOC110120751:VISTA enhancer hs705 [Gene]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
  • ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - HGNC]
  • CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
  • LOC107985728:collagen alpha-1(III) chain-like [Gene]
  • LOC106783496:conserved acetylation island sequence 30 enhancer [Gene]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • FAM41C:family with sequence similarity 41 member C [Gene - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
  • LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
  • LINC01128:long intergenic non-protein coding RNA 1128 [Gene - HGNC]
  • LINC01134:long intergenic non-protein coding RNA 1134 [Gene - HGNC]
  • LINC01342:long intergenic non-protein coding RNA 1342 [Gene - HGNC]
  • LINC01345:long intergenic non-protein coding RNA 1345 [Gene - HGNC]
  • LINC01346:long intergenic non-protein coding RNA 1346 [Gene - HGNC]
  • LINC01646:long intergenic non-protein coding RNA 1646 [Gene - HGNC]
  • LINC01770:long intergenic non-protein coding RNA 1770 [Gene - HGNC]
  • LINC01777:long intergenic non-protein coding RNA 1777 [Gene - HGNC]
  • LINC01786:long intergenic non-protein coding RNA 1786 [Gene - HGNC]
  • LINC02593:long intergenic non-protein coding RNA 2593 [Gene - HGNC]
  • LINC02782:long intergenic non-protein coding RNA 2782 [Gene - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR4251:microRNA 4251 [Gene - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MIR4417:microRNA 4417 [Gene - HGNC]
  • MIR551A:microRNA 551a [Gene - OMIM - HGNC]
  • MIR6726:microRNA 6726 [Gene - HGNC]
  • MIR6727:microRNA 6727 [Gene - HGNC]
  • MIR6808:microRNA 6808 [Gene - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
  • SNORD167:small nucleolar RNA, C/D box 167 [Gene - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
  • TP73:tumor protein p73 [Gene - OMIM - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • LOC100288175:uncharacterized LOC100288175 [Gene]
  • LOC100996583:uncharacterized LOC100996583 [Gene]
  • LOC105378586:uncharacterized LOC105378586 [Gene]
  • LOC105378948:uncharacterized LOC105378948 [Gene]
  • LOC112268219:uncharacterized LOC112268219 [Gene]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.33-36.31
Genomic location:
Preferred name:
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1
HGVS:
  • NC_000001.11:g.(?_844147)_(5827203_?)del
  • NC_000001.10:g.(?_779527)_(5887263_?)del
  • NC_000001.9:g.(?_769390)_(5809850_?)del
Links:
dbVar: nssv577131; dbVar: nsv530727
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079364ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000079364.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Feb 20, 2022