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Variant : CV383485 (GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1) Homo sapiens

Symbol: CV383485
Name: GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1
Condition: See cases [RCV000445741]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCG2   ADH1A   ADH1B   ADH1C   ADH4   ADH5   ADH6   ADH7   AFF1   ARHGAP24   ATOH1   BANK1   BMPR1B   C4orf17   C4orf36   CCSER1   DAPP1   DDIT4L   DMP1   DNAJB14   DSPP   EIF4E   EMCN   FAM13A   FAM13A-AS1   GPRIN3   GRID2   H2AZ1   HERC3   HERC5   HERC6   HPGDS   HSD17B11   HSD17B13   IBSP   KLHL8   LAMTOR3   MANBA   MAPK10   MEPE   METAP1   MMRN1   MTTP   NAP1L5   NFKB1   NUDT9   PDHA2   PDLIM5   PIGY   PKD2   PPM1K   PPP3CA   PTPN13   PYURF   RAP1GDS1   SLC10A6   SLC39A8   SMARCAD1   SNCA   SPARCL1   SPP1   STPG2   TIGD2   TRMT10A   TSPAN5   UNC5C   WDFY3  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37485,805,268 - 103,678,797CLINVAR
Cytogenetic Map44q21.23-24CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12850474
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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