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Variant : CV383614 (GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1) Homo sapiens

Symbol: CV383614
Name: GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1
Condition: See cases [RCV000446383]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACCS   ACCSL   ACP2   AGBL2   ALKBH3   ALX4   AMBRA1   API5   ARFGAP2   ARHGAP1   ATG13   C11orf49   C11orf94   C11orf96   C1QTNF4   CD82   CELF1   CHRM4   CHST1   CKAP5   CREB3L1   CRY2   DDB2   DGKZ   EXT2   F2   FAM180B   FNBP4   HARBI1   HSD17B12   KBTBD4   LARGE2   LRP4   MADD   MADD-AS1   MAPK8IP1   MDK   MTCH2   MYBPC3   NDUFS3   NR1H3   NUP160   OR4B1   OR4C3   OR4S1   OR4X1   OR4X2   PACSIN3   PEX16   PHF21A   PRDM11   PSMC3   PTPMT1   PTPRJ   RAPSN   SLC35C1   SLC39A13   SPI1   SYT13   TP53I11   TSPAN18   TTC17   ZNF408  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371142,475,897 - 48,372,559CLINVAR
Cytogenetic Map1111p12-11.2CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12851108
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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