Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV382901 (GRCh37/hg19 13q34(chr13:111550457-115107733)x1) Homo sapiens

Symbol: CV382901
Name: GRCh37/hg19 13q34(chr13:111550457-115107733)x1
Condition: See cases [RCV000445865]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADPRHL1   ANKRD10   ANKRD10-IT1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   CDC16   CHAMP1   CUL4A   DCUN1D2   F10   F7   GAS6   GRTP1   LAMP1   LINC00565   MCF2L   PCID2   PROZ   RASA3   SOX1   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TUBGCP3   UPF3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3713111,550,457 - 115,107,733CLINVAR
Cytogenetic Map1313q34CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850595
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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