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GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2017
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:
RCV000682296.1

Allele description [Variation Report for GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1]

GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1

Genes:
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • BTLA:B and T lymphocyte associated [Gene - OMIM - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CD200:CD200 molecule [Gene - OMIM - HGNC]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - HGNC]
  • GTPBP8:GTP binding protein 8 (putative) [Gene - HGNC]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • ATG3:autophagy related 3 [Gene - OMIM - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • LSAMP:limbic system associated membrane protein [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - HGNC]
  • SLC9C1:solute carrier family 9 member C1 [Gene - OMIM - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q13.2-13.31
Genomic location:
Chr3: 111894832 - 116930109 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1
HGVS:
NC_000003.11:g.(?_111894832)_(116930109_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000809803Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Jul 25, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000809803.1

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

Last Updated: Apr 23, 2022