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Variant : CV605604 (GRCh37/hg19 13q34(chr13:111152478-114527838)x1) Homo sapiens

Symbol: CV605604
Name: GRCh37/hg19 13q34(chr13:111152478-114527838)x1
Condition: not provided [RCV000750904]
Clinical Significance: pathogenic
Last Evaluated: 05/26/2015
Review Status: no assertion criteria provided
Related Genes: ADPRHL1   ANKRD10   ANKRD10-IT1   ARHGEF7   ATP11A   ATP11AUN   ATP4B   CARS2   COL4A2   CUL4A   DCUN1D2   F10   F7   GAS6   GRTP1   ING1   LAMP1   LINC00567   MCF2L   NAXD   PCID2   PROZ   RAB20   SOX1   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TUBGCP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3713111,152,478 - 114,527,838CLINVAR
Cytogenetic Map1313q34CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14366230
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.