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Variant : CV247378 (GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1) Homo sapiens

Symbol: CV247378
Name: GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1
Condition: See cases [RCV000239432]
Clinical Significance: pathogenic
Last Evaluated: 06/07/2016
Review Status: criteria provided, single submitter
Related Genes: AGPS   ANKAR   ASNSD1   C2orf88   CALCRL   CAVIN2   CCDC141   CERKL   COL3A1   COL5A2   CWC22   DIRC1   DNAJC10   DUSP19   FAM171B   FKBP7   FRZB   FSIP2   GLS   GULP1   HIBCH   HNRNPA3   INPP1   ITGA4   ITGAV   ITPRID2   MFSD6   MIR1258   MSTN   MYO1B   NAB1   NABP1   NCKAP1   NEMP2   NEUROD1   NFE2L2   NUP35   ORMDL1   OSBPL6   OSGEPL1   PCGEM1   PDE11A   PDE1A   PJVK   PLEKHA3   PMS1   PPP1R1C   PRKRA   RBM45   SESTD1   SLC40A1   STAT1   STAT4   TFPI   TMEFF2   TTC30A   TTC30B   TTN   UBE2E3   WDR75   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372177,315,153 - 196,375,520CLINVAR
Cytogenetic Map22q31.1-32.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 11531147
Created: 2016-09-01
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.