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GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 2015
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:
RCV000510370.3

Allele description [Variation Report for GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1]

GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1

Genes:
  • GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
  • HUS1B:HUS1 checkpoint clamp component B [Gene - OMIM - HGNC]
  • NQO2:N-ribosyldihydronicotinamide:quinone dehydrogenase 2 [Gene - OMIM - HGNC]
  • PXDC1:PX domain containing 1 [Gene - HGNC]
  • WRNIP1:WRN helicase interacting protein 1 [Gene - OMIM - HGNC]
  • BPHL:biphenyl hydrolase like [Gene - OMIM - HGNC]
  • C6orf201:chromosome 6 open reading frame 201 [Gene - HGNC]
  • ECI2:enoyl-CoA delta isomerase 2 [Gene - OMIM - HGNC]
  • EXOC2:exocyst complex component 2 [Gene - OMIM - HGNC]
  • FAM217A:family with sequence similarity 217 member A [Gene - HGNC]
  • FAM50B:family with sequence similarity 50 member B [Gene - OMIM - HGNC]
  • FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
  • FOXF2:forkhead box F2 [Gene - OMIM - HGNC]
  • FOXQ1:forkhead box Q1 [Gene - OMIM - HGNC]
  • IRF4:interferon regulatory factor 4 [Gene - OMIM - HGNC]
  • LINC01600:long intergenic non-protein coding RNA 1600 [Gene - HGNC]
  • MYLK4:myosin light chain kinase family member 4 [Gene - HGNC]
  • PRP4K:pre-mRNA processing factor kinase PRP4K [Gene - OMIM - HGNC]
  • PSMG4:proteasome assembly chaperone 4 [Gene - OMIM - HGNC]
  • RIPK1:receptor interacting serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • SERPINB1:serpin family B member 1 [Gene - OMIM - HGNC]
  • SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
  • SERPINB9:serpin family B member 9 [Gene - OMIM - HGNC]
  • SLC22A23:solute carrier family 22 member 23 [Gene - OMIM - HGNC]
  • TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
  • TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6p25.3-25.2
Genomic location:
Chr6: 383951 - 4183288 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1
HGVS:
NC_000006.11:g.(?_383951)_(4183288_?)del
Links:
dbVar: nssv13641642; dbVar: nsv2777411
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
SCV000585875ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 27, 2015) 		unknownclinical 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 1, SCV000585875.1

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

Last Updated: May 7, 2024