U.S. flag

An official website of the United States government

GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000141085.3

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3]

GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3

Genes:
  • LOC130062901:ATAC-STARR-seq lymphoblastoid active region 13598 [Gene]
  • LOC130062902:ATAC-STARR-seq lymphoblastoid active region 13599 [Gene]
  • LOC130062905:ATAC-STARR-seq lymphoblastoid active region 13600 [Gene]
  • LOC130062918:ATAC-STARR-seq lymphoblastoid active region 13601 [Gene]
  • LOC130062919:ATAC-STARR-seq lymphoblastoid active region 13602 [Gene]
  • LOC130062922:ATAC-STARR-seq lymphoblastoid active region 13603 [Gene]
  • LOC130062923:ATAC-STARR-seq lymphoblastoid active region 13604 [Gene]
  • LOC130062924:ATAC-STARR-seq lymphoblastoid active region 13605 [Gene]
  • LOC130062925:ATAC-STARR-seq lymphoblastoid active region 13606 [Gene]
  • LOC130062926:ATAC-STARR-seq lymphoblastoid active region 13607 [Gene]
  • LOC130062934:ATAC-STARR-seq lymphoblastoid active region 13608 [Gene]
  • LOC130062935:ATAC-STARR-seq lymphoblastoid active region 13609 [Gene]
  • LOC130062903:ATAC-STARR-seq lymphoblastoid silent region 9673 [Gene]
  • LOC130062904:ATAC-STARR-seq lymphoblastoid silent region 9674 [Gene]
  • LOC130062906:ATAC-STARR-seq lymphoblastoid silent region 9675 [Gene]
  • LOC130062907:ATAC-STARR-seq lymphoblastoid silent region 9677 [Gene]
  • LOC130062908:ATAC-STARR-seq lymphoblastoid silent region 9678 [Gene]
  • LOC130062909:ATAC-STARR-seq lymphoblastoid silent region 9679 [Gene]
  • LOC130062910:ATAC-STARR-seq lymphoblastoid silent region 9680 [Gene]
  • LOC130062911:ATAC-STARR-seq lymphoblastoid silent region 9681 [Gene]
  • LOC130062912:ATAC-STARR-seq lymphoblastoid silent region 9682 [Gene]
  • LOC130062913:ATAC-STARR-seq lymphoblastoid silent region 9683 [Gene]
  • LOC130062914:ATAC-STARR-seq lymphoblastoid silent region 9685 [Gene]
  • LOC130062915:ATAC-STARR-seq lymphoblastoid silent region 9686 [Gene]
  • LOC130062916:ATAC-STARR-seq lymphoblastoid silent region 9687 [Gene]
  • LOC130062917:ATAC-STARR-seq lymphoblastoid silent region 9688 [Gene]
  • LOC130062920:ATAC-STARR-seq lymphoblastoid silent region 9689 [Gene]
  • LOC130062921:ATAC-STARR-seq lymphoblastoid silent region 9690 [Gene]
  • LOC130062927:ATAC-STARR-seq lymphoblastoid silent region 9691 [Gene]
  • LOC130062928:ATAC-STARR-seq lymphoblastoid silent region 9692 [Gene]
  • LOC130062929:ATAC-STARR-seq lymphoblastoid silent region 9693 [Gene]
  • LOC130062930:ATAC-STARR-seq lymphoblastoid silent region 9694 [Gene]
  • LOC130062931:ATAC-STARR-seq lymphoblastoid silent region 9695 [Gene]
  • LOC130062932:ATAC-STARR-seq lymphoblastoid silent region 9697 [Gene]
  • LOC130062933:ATAC-STARR-seq lymphoblastoid silent region 9698 [Gene]
  • ATP5F1D:ATP synthase F1 subunit delta [Gene - OMIM - HGNC]
  • CBARP-DT:CBARP divergent transcript [Gene - HGNC]
  • CIRBP-AS1:CIRBP antisense RNA 1 [Gene - HGNC]
  • CIRBP:cold inducible RNA binding protein [Gene - OMIM - HGNC]
  • FAM174C:family with sequence similarity 174 member C [Gene - HGNC]
  • MIDN:midnolin [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3
HGVS:
  • NC_000019.10:g.(?_1239075)_(1282856_?)dup
  • NC_000019.9:g.(?_1239074)_(1282855_?)dup
Links:
dbVar: nssv1608641; dbVar: nsv932469
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181951GeneDx
no assertion criteria provided
Benign
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000181951.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023