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GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000138079.5

Allele description [Variation Report for GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1]

GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1

Genes:
  • HTR6:5-hydroxytryptamine receptor 6 [Gene - OMIM - HGNC]
  • LOC129929576:ATAC-STARR-seq lymphoblastoid active region 305 [Gene]
  • LOC129929579:ATAC-STARR-seq lymphoblastoid active region 306 [Gene]
  • LOC129929580:ATAC-STARR-seq lymphoblastoid active region 307 [Gene]
  • LOC129929581:ATAC-STARR-seq lymphoblastoid active region 308 [Gene]
  • LOC129929583:ATAC-STARR-seq lymphoblastoid active region 309 [Gene]
  • LOC129929584:ATAC-STARR-seq lymphoblastoid active region 310 [Gene]
  • LOC129929585:ATAC-STARR-seq lymphoblastoid active region 311 [Gene]
  • LOC129929586:ATAC-STARR-seq lymphoblastoid active region 312 [Gene]
  • LOC129929587:ATAC-STARR-seq lymphoblastoid active region 313 [Gene]
  • LOC129929588:ATAC-STARR-seq lymphoblastoid active region 314 [Gene]
  • LOC129929589:ATAC-STARR-seq lymphoblastoid active region 315 [Gene]
  • LOC129929590:ATAC-STARR-seq lymphoblastoid active region 316 [Gene]
  • LOC129929591:ATAC-STARR-seq lymphoblastoid active region 317 [Gene]
  • LOC129929593:ATAC-STARR-seq lymphoblastoid active region 318 [Gene]
  • LOC129929594:ATAC-STARR-seq lymphoblastoid active region 319 [Gene]
  • LOC129929595:ATAC-STARR-seq lymphoblastoid active region 320 [Gene]
  • LOC129929577:ATAC-STARR-seq lymphoblastoid silent region 357 [Gene]
  • LOC129929578:ATAC-STARR-seq lymphoblastoid silent region 359 [Gene]
  • LOC129929582:ATAC-STARR-seq lymphoblastoid silent region 362 [Gene]
  • LOC129929592:ATAC-STARR-seq lymphoblastoid silent region 363 [Gene]
  • LOC129929596:ATAC-STARR-seq lymphoblastoid silent region 364 [Gene]
  • LOC129929597:ATAC-STARR-seq lymphoblastoid silent region 365 [Gene]
  • LOC129929598:ATAC-STARR-seq lymphoblastoid silent region 366 [Gene]
  • LOC129929599:ATAC-STARR-seq lymphoblastoid silent region 368 [Gene]
  • LOC129929600:ATAC-STARR-seq lymphoblastoid silent region 369 [Gene]
  • LOC129929601:ATAC-STARR-seq lymphoblastoid silent region 370 [Gene]
  • LOC129929602:ATAC-STARR-seq lymphoblastoid silent region 375 [Gene]
  • LOC129929603:ATAC-STARR-seq lymphoblastoid silent region 376 [Gene]
  • LOC126805645:BRD4-independent group 4 enhancer GRCh37_chr1:20076458-20077657 [Gene]
  • LOC126805647:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20511679-20512878 [Gene]
  • LOC126805648:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20537509-20538708 [Gene]
  • LOC126805650:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20706555-20707754 [Gene]
  • LOC126805646:MED14-independent group 3 enhancer GRCh37_chr1:20091493-20092692 [Gene]
  • LOC126805649:MED14-independent group 3 enhancer GRCh37_chr1:20592229-20593428 [Gene]
  • MICOS10-DT:MICOS10 divergent transcript [Gene - HGNC]
  • MICOS10-NBL1:MICOS10-NBL1 readthrough [Gene - HGNC]
  • LOC129388461:MPRA-validated peak101 silencer [Gene]
  • LOC129388462:MPRA-validated peak103 silencer [Gene]
  • NBL1:NBL1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • LOC132088606:Neanderthal introgressed variant-containing enhancer experimental_1574 [Gene]
  • LOC132088607:Neanderthal introgressed variant-containing enhancer experimental_1580 [Gene]
  • LOC132088608:Neanderthal introgressed variant-containing enhancer experimental_1609 [Gene]
  • LOC132090659:Neanderthal introgressed variant-containing enhancer experimental_1624 [Gene]
  • LOC132088609:Neanderthal introgressed variant-containing enhancer experimental_1646 [Gene]
  • LOC132088610:Neanderthal introgressed variant-containing enhancer experimental_1651 [Gene]
  • LOC132088611:Neanderthal introgressed variant-containing enhancer experimental_1658 [Gene]
  • LOC132088612:Neanderthal introgressed variant-containing enhancer experimental_1659 [Gene]
  • LOC132088613:Neanderthal introgressed variant-containing enhancer experimental_1661 [Gene]
  • LOC132088614:Neanderthal introgressed variant-containing enhancer experimental_1663 [Gene]
  • LOC132088615:Neanderthal introgressed variant-containing enhancer experimental_1667 [Gene]
  • OTUD3:OTU deubiquitinase 3 [Gene - OMIM - HGNC]
  • LOC126805651:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:20822193-20823392 [Gene]
  • PINK1-AS:PINK1 antisense RNA [Gene - HGNC]
  • PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
  • RNF186-AS1:RNF186 antisense RNA 1 [Gene - HGNC]
  • SH2D5:SH2 domain containing 5 [Gene - HGNC]
  • LOC120893118:Sharpr-MPRA regulatory region 3300 [Gene]
  • LOC122056779:Sharpr-MPRA regulatory region 6877 [Gene]
  • LOC120893119:Sharpr-MPRA regulatory region 8954 [Gene]
  • UBXN10:UBX domain protein 10 [Gene - OMIM - HGNC]
  • CAMK2N1:calcium/calmodulin dependent protein kinase II inhibitor 1 [Gene - OMIM - HGNC]
  • CDA:cytidine deaminase [Gene - OMIM - HGNC]
  • DDOST:dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
  • EIF4G3:eukaryotic translation initiation factor 4 gamma 3 [Gene - OMIM - HGNC]
  • FAM43B:family with sequence similarity 43 member B [Gene - HGNC]
  • HP1BP3:heterochromatin protein 1 binding protein 3 [Gene - OMIM - HGNC]
  • KIF17:kinesin family member 17 [Gene - OMIM - HGNC]
  • LINC01141:long intergenic non-protein coding RNA 1141 [Gene - HGNC]
  • LINC01757:long intergenic non-protein coding RNA 1757 [Gene - HGNC]
  • MIR6084:microRNA 6084 [Gene - HGNC]
  • MUL1:mitochondrial E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • MICOS10:mitochondrial contact site and cristae organizing system subunit 10 [Gene - OMIM - HGNC]
  • PLA2G2A:phospholipase A2 group IIA [Gene - OMIM - HGNC]
  • PLA2G2C:phospholipase A2 group IIC [Gene - HGNC]
  • PLA2G2D:phospholipase A2 group IID [Gene - OMIM - HGNC]
  • PLA2G2E:phospholipase A2 group IIE [Gene - OMIM - HGNC]
  • PLA2G2F:phospholipase A2 group IIF [Gene - OMIM - HGNC]
  • PLA2G5:phospholipase A2 group V [Gene - OMIM - HGNC]
  • RNF186:ring finger protein 186 [Gene - OMIM - HGNC]
  • TMCO4:transmembrane and coiled-coil domains 4 [Gene - HGNC]
  • LOC117779438:uncharacterized LOC117779438 [Gene]
  • VWA5B1:von Willebrand factor A domain containing 5B1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.13-36.12
Genomic location:
Preferred name:
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1
HGVS:
  • NC_000001.11:g.(?_19548795)_(20935131_?)del
  • NC_000001.10:g.(?_19875289)_(21261624_?)del
  • NC_000001.9:g.(?_19747876)_(21134211_?)del
Links:
dbVar: nssv1495172; dbVar: nsv869274
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
SCV000178342ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 10, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178342.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024