U.S. flag

An official website of the United States government

  • delete

GRCh37/hg19 13q34(chr13:113625366-114153873)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000446958.1

Allele description

GRCh37/hg19 13q34(chr13:113625366-114153873)x1

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q34
Genomic location:
Chr13: 113625366 - 114153873 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q34(chr13:113625366-114153873)x1
HGVS:
NC_000013.10:g.(?_113625366)_(114153873_?)del
Links:
dbVar: nssv13655233; dbVar: nsv2777726
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
SCV000502699ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
no assertion criteria provided
Likely pathogenicnot providedclinical testing

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502699.1

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

Last Updated: Feb 20, 2022