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Variant : CV382704 (GRCh37/hg19 13q34(chr13:111282121-115107733)x1) Homo sapiens

Symbol: CV382704
Name: GRCh37/hg19 13q34(chr13:111282121-115107733)x1
Condition: See cases [RCV000447085]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADPRHL1   ANKRD10   ANKRD10-IT1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   CARS2   CDC16   CHAMP1   CUL4A   DCUN1D2   F10   F7   GAS6   GRTP1   ING1   LAMP1   LINC00565   LINC00567   MCF2L   NAXD   PCID2   PROZ   RASA3   SOX1   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TUBGCP3   UPF3A  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3713111,282,121 - 115,107,733CLINVAR
Cytogenetic Map1313q34CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12851804
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.