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Variant : CV383072 (GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1) Homo sapiens

Symbol: CV383072
Name: GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1
Condition: See cases [RCV000448783]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   CARS2   CDC16   CHAMP1   COL4A1   COL4A2   CUL4A   DAOA   DAOA-AS1   DCUN1D2   EFNB2   F10   F7   FAM155A   GAS6   GRTP1   ING1   IRS2   LAMP1   LIG4   LINC00565   LINC00567   MCF2L   MYO16   NAXD   PCID2   PROZ   RAB20   RASA3   SOX1   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TNFSF13B   TUBGCP3   UPF3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3713106,056,749 - 115,107,733CLINVAR
Cytogenetic Map1313q33.2-34CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853484
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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