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Variant : CV614117 (GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)) Homo sapiens

Symbol: CV614117
Name: GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)
Condition: not provided [RCV000767821]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   CARS2   CCDC168   CDC16   CHAMP1   COL4A1   COL4A2   CUL4A   DAOA   DAOA-AS1   DCUN1D2   EFNB2   ERCC5   F10   F7   FAM155A   FGF14   GAS6   GRTP1   ING1   IRS2   ITGBL1   LAMP1   LIG4   LINC00565   LINC00567   MCF2L   METTL21C   MYO16   NALCN   NAXD   PCID2   POGLUT2   PROZ   RAB20   RASA3   SLC10A2   SOX1   SPACA7   TEX29   TEX30   TFDP1   TMCO3   TMEM255B   TNFSF13B   TPP2   TUBGCP3   UPF3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3713101,881,803 - 115,091,330CLINVAR
Cytogenetic Map1313q33.1-34CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14399770
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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