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Variant : CV554601 (GRCh37/hg19 7q33(chr7:133230189-137972605)x1) Homo sapiens

Symbol: CV554601
Name: GRCh37/hg19 7q33(chr7:133230189-137972605)x1
Condition: not provided [RCV000682906]
Clinical Significance: pathogenic
Last Evaluated: 02/16/2018
Review Status: no assertion criteria provided
Related Genes: AGBL3   AKR1B1   AKR1B10   AKR1B15   AKR1D1   BPGM   CALD1   CHRM2   CNOT4   CREB3L2   CYREN   DGKI   EXOC4   FAM180A   LRGUK   LUZP6   MTPN   NUP205   PTN   SLC13A4   SLC35B4   STMP1   STRA8   TMEM140   WDR91  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh377133,230,189 - 137,972,605CLINVAR
Cytogenetic Map77q33CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795807
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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