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Variant : CV247903 (GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1) Homo sapiens

Symbol: CV247903
Name: GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1
Condition: See cases [RCV000240177]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AASS   ANKRD7   ARF5   ASB15   ASZ1   BMT2   CADPS2   CAPZA2   CAV1   CAV2   CFTR   CPED1   CTTNBP2   DOCK4   FAM3C   FEZF1   FOXP2   FSCN3   GCC1   GPR37   GPR85   GRM8   HYAL4   IFRD1   ING3   IQUB   KCND2   LEP   LMOD2   LRRC4   LSM8   LSMEM1   MDFIC   MET   NDUFA5   PAX4   POT1   PPP1R3A   PTPRZ1   RNF133   RNF148   RNU2-1   SLC13A1   SND1   SPAM1   ST7   ST7-OT3   ST7-OT4   TAS2R16   TES   TFEC   TMEM168   TMEM229A   TSPAN12   WASL   WNT16   WNT2   ZNF277   ZNF800  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh377111,613,396 - 127,897,316CLINVAR
Cytogenetic Map77q31.1-32.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541617
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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