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GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2019
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:
RCV001005086.1

Allele description [Variation Report for GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1]

GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1

Genes:
  • AGBL4:AGBL carboxypeptidase 4 [Gene - OMIM - HGNC]
  • BEND5:BEN domain containing 5 [Gene - HGNC]
  • DMRTA2:DMRT like family A2 [Gene - OMIM - HGNC]
  • ELAVL4:ELAV like RNA binding protein 4 [Gene - OMIM - HGNC]
  • FAF1:Fas associated factor 1 [Gene - OMIM - HGNC]
  • KTI12:KTI12 chromatin associated homolog [Gene - HGNC]
  • PDZK1IP1:PDZK1 interacting protein 1 [Gene - OMIM - HGNC]
  • RAB3B:RAB3B, member RAS oncogene family [Gene - OMIM - HGNC]
  • STIL:STIL centriolar assembly protein [Gene - OMIM - HGNC]
  • TAL1:TAL bHLH transcription factor 1, erythroid differentiation factor [Gene - OMIM - HGNC]
  • TRABD2B:TraB domain containing 2B [Gene - OMIM - HGNC]
  • C1orf185:chromosome 1 open reading frame 185 [Gene - HGNC]
  • CDKN2C:cyclin dependent kinase inhibitor 2C [Gene - OMIM - HGNC]
  • CMPK1:cytidine/uridine monophosphate kinase 1 [Gene - OMIM - HGNC]
  • CYP4A11:cytochrome P450 family 4 subfamily A member 11 [Gene - OMIM - HGNC]
  • CYP4A22:cytochrome P450 family 4 subfamily A member 22 [Gene - OMIM - HGNC]
  • CYP4B1:cytochrome P450 family 4 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP4X1:cytochrome P450 family 4 subfamily X member 1 [Gene - OMIM - HGNC]
  • CYP4Z1:cytochrome P450 family 4 subfamily Z member 1 [Gene - OMIM - HGNC]
  • EPS15:epidermal growth factor receptor pathway substrate 15 [Gene - OMIM - HGNC]
  • FOXD2:forkhead box D2 [Gene - OMIM - HGNC]
  • FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
  • LINC00853:long intergenic non-protein coding RNA 853 [Gene - HGNC]
  • NRDC:nardilysin convertase [Gene - OMIM - HGNC]
  • OSBPL9:oxysterol binding protein like 9 [Gene - OMIM - HGNC]
  • RNF11:ring finger protein 11 [Gene - OMIM - HGNC]
  • SLC5A9:solute carrier family 5 member 9 [Gene - OMIM - HGNC]
  • SPATA6:spermatogenesis associated 6 [Gene - OMIM - HGNC]
  • TTC39A:tetratricopeptide repeat domain 39A [Gene - OMIM - HGNC]
  • TXNDC12:thioredoxin domain containing 12 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p33-32.3
Genomic location:
Chr1: 47272184 - 52505405 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1
HGVS:
NC_000001.10:g.(?_47272184)_(52505405_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001164632Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Feb 21, 2019)
germlineclinical testing

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, SCV001164632.1

#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: Sep 1, 2024