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Variant : CV435295 (GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3) Homo sapiens

Symbol: CV435295
Name: GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3
Condition: See cases [RCV000512526]
Clinical Significance: likely benign
Last Evaluated: 09/27/2013
Review Status: no assertion criteria provided
Related Genes: DIAPH1   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   SLC25A2   TAF7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375140,676,272 - 140,929,172CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13445488
Created: 2017-11-07
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.