U.S. flag

An official website of the United States government

  • delete

GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 25, 2012
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:
RCV000746819.2

Allele description

GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1

Genes:
  • CD36:CD36 molecule [Gene - OMIM - HGNC]
  • GNAI1:G protein subunit alpha i1 [Gene - OMIM - HGNC]
  • GNAT3:G protein subunit alpha transducin 3 [Gene - OMIM - HGNC]
  • POMZP3:POM121 and ZP3 fusion [Gene - OMIM - HGNC]
  • CCDC146:coiled-coil domain containing 146 [Gene - OMIM - HGNC]
  • POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
  • DTX2:deltex E3 ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • FGL2:fibrinogen like 2 [Gene - OMIM - HGNC]
  • GSAP:gamma-secretase activating protein [Gene - OMIM - HGNC]
  • HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
  • MDH2:malate dehydrogenase 2 [Gene - OMIM - HGNC]
  • MAGI2:membrane associated guanylate kinase, WW and PDZ domain containing 2 [Gene - OMIM - HGNC]
  • PTPN12:protein tyrosine phosphatase non-receptor type 12 [Gene - OMIM - HGNC]
  • PHTF2:putative homeodomain transcription factor 2 [Gene - OMIM - HGNC]
  • RSBN1L:round spermatid basic protein 1 like [Gene - HGNC]
  • SSC4D:scavenger receptor cysteine rich family member with 4 domains [Gene - OMIM - HGNC]
  • SRRM3:serine/arginine repetitive matrix 3 [Gene - HGNC]
  • STYXL1:serine/threonine/tyrosine interacting like 1 [Gene - OMIM - HGNC]
  • TMEM120A:transmembrane protein 120A [Gene - OMIM - HGNC]
  • TMEM60:transmembrane protein 60 [Gene - HGNC]
  • YWHAG:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Gene - OMIM - HGNC]
  • ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q11.23-21.11
Genomic location:
Chr7: 75588704 - 80277632 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1
HGVS:
NC_000007.13:g.(?_75588704)_(80277632_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000875155Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
no assertion criteria provided
Pathogenic
(Sep 25, 2012)
de novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000875155.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000295241.2)
not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providedbloodnot provided
(GTR000295241.2)
not providednot providednot providednot provided

Last Updated: Mar 4, 2023