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Variant : CV381869 (GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1) Homo sapiens

Symbol: CV381869
Name: GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1
Condition: See cases [RCV000447691]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   AFF1   ARHGAP24   C4orf36   CDS1   COPS4   COQ2   DMP1   DSPP   ENOPH1   FAM13A   FAM13A-AS1   GPAT3   GPRIN3   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPSE   HSD17B11   HSD17B13   IBSP   KLHL8   LIN54   MAPK10   MEPE   MRPS18C   NAP1L5   NKX6-1   NUDT9   PIGY   PKD2   PLAC8   PPM1K   PTPN13   PYURF   RASGEF1B   SCD5   SEC31A   SLC10A6   SPARCL1   SPP1   THAP9   TIGD2   TMEM150C   WDFY3  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37482,283,358 - 90,341,831CLINVAR
Cytogenetic Map44q21.21-22.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12852405
Created: 2017-04-11
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.