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GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 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:
RCV000139546.4

Allele description [Variation Report for GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1]

GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1

Genes:
  • LOC129931328:ATAC-STARR-seq lymphoblastoid active region 1610 [Gene]
  • LOC129931329:ATAC-STARR-seq lymphoblastoid active region 1611 [Gene]
  • LOC129931330:ATAC-STARR-seq lymphoblastoid active region 1612 [Gene]
  • LOC129931331:ATAC-STARR-seq lymphoblastoid active region 1613 [Gene]
  • LOC129931332:ATAC-STARR-seq lymphoblastoid active region 1614 [Gene]
  • LOC129931338:ATAC-STARR-seq lymphoblastoid active region 1616 [Gene]
  • LOC129931339:ATAC-STARR-seq lymphoblastoid active region 1617 [Gene]
  • LOC129931342:ATAC-STARR-seq lymphoblastoid active region 1621 [Gene]
  • LOC129931343:ATAC-STARR-seq lymphoblastoid active region 1622 [Gene]
  • LOC129931344:ATAC-STARR-seq lymphoblastoid active region 1626 [Gene]
  • LOC129931345:ATAC-STARR-seq lymphoblastoid active region 1627 [Gene]
  • LOC129931346:ATAC-STARR-seq lymphoblastoid active region 1628 [Gene]
  • LOC129931349:ATAC-STARR-seq lymphoblastoid active region 1629 [Gene]
  • LOC129931326:ATAC-STARR-seq lymphoblastoid silent region 1262 [Gene]
  • LOC129931327:ATAC-STARR-seq lymphoblastoid silent region 1263 [Gene]
  • LOC129931333:ATAC-STARR-seq lymphoblastoid silent region 1264 [Gene]
  • LOC129931334:ATAC-STARR-seq lymphoblastoid silent region 1265 [Gene]
  • LOC129931335:ATAC-STARR-seq lymphoblastoid silent region 1266 [Gene]
  • LOC129931336:ATAC-STARR-seq lymphoblastoid silent region 1267 [Gene]
  • LOC129931337:ATAC-STARR-seq lymphoblastoid silent region 1268 [Gene]
  • LOC129931340:ATAC-STARR-seq lymphoblastoid silent region 1269 [Gene]
  • LOC129931341:ATAC-STARR-seq lymphoblastoid silent region 1270 [Gene]
  • LOC129931347:ATAC-STARR-seq lymphoblastoid silent region 1271 [Gene]
  • LOC129931348:ATAC-STARR-seq lymphoblastoid silent region 1272 [Gene]
  • LOC129931350:ATAC-STARR-seq lymphoblastoid silent region 1273 [Gene]
  • LOC108254679:BRD4-independent group 4 enhancer GRCh37_chr1:145455010-145456209 [Gene]
  • CD160:CD160 molecule [Gene - OMIM - HGNC]
  • LOC126805850:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145584188-145585387 [Gene]
  • LOC126805849:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145727451-145728650 [Gene]
  • GPR89A:G protein-coupled receptor 89A [Gene - OMIM - HGNC]
  • LIX1L-AS1:LIX1L antisense RNA 1 [Gene - HGNC]
  • LOC126805851:MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 [Gene]
  • LOC129388601:MPRA-validated peak399 silencer [Gene]
  • PDZK1:PDZ domain containing 1 [Gene - OMIM - HGNC]
  • RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]
  • POLR3C:RNA polymerase III subunit C [Gene - OMIM - HGNC]
  • POLR3GL:RNA polymerase III subunit GL [Gene - OMIM - HGNC]
  • LOC122128419:Sharpr-MPRA regulatory region 4010 [Gene]
  • ANKRD34A:ankyrin repeat domain 34A [Gene - HGNC]
  • ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
  • LOC106783502:conserved acetylation island sequence C12 enhancer [Gene]
  • HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]
  • ITGA10:integrin subunit alpha 10 [Gene - OMIM - HGNC]
  • LIX1L:limb and CNS expressed 1 like [Gene - HGNC]
  • MIR6736:microRNA 6736 [Gene - HGNC]
  • NUDT17:nudix hydrolase 17 [Gene - HGNC]
  • PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM - HGNC]
  • PIAS3:protein inhibitor of activated STAT 3 [Gene - OMIM - HGNC]
  • RNF115:ring finger protein 115 [Gene - OMIM - HGNC]
  • TRE-CTC1-1:tRNA-Glu (anticodon CTC) 1-1 [Gene - HGNC]
  • TRG-TCC2-1:tRNA-Gly (anticodon TCC) 2-1 [Gene - HGNC]
  • TRH-GTG1-1:tRNA-His (anticodon GTG) 1-1 [Gene - HGNC]
  • TRK-CTT2-1:tRNA-Lys (anticodon CTT) 2-1 [Gene - HGNC]
  • TXNIP:thioredoxin interacting protein [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q21.1
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1
HGVS:
  • NC_000001.11:g.(?_145601946)_(146046631_?)del
  • NC_000001.10:g.(?_145388369)_(145899418_?)del
  • NC_000001.9:g.(?_144099726)_(144610775_?)del
Links:
dbVar: nssv1603787; dbVar: nsv917018
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
SCV000180112ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		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

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 4, SCV000180112.3

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

Last Updated: Oct 14, 2023