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Variant : CV614012 (GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)) Homo sapiens

Symbol: CV614012
Name: GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)
Condition: not provided [RCV000767716]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ADSS1   AHNAK2   AKT1   ASPG   ATP5MPL   BAG5   BRF1   C14orf180   CDCA4   CEP170B   CKB   CLBA1   COA8   EIF5   GPR132   INF2   JAG2   KIF26A   KLC1   MARK3   MIR203A   NUDT14   PLD4   PPP1R13B   RD3L   SIVA1   TDRD9   TMEM179   TRMT61A   XRCC3   ZBTB42   ZFYVE21  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3714103,804,791 - 105,677,579CLINVAR
Cytogenetic Map1414q32.32-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14398881
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-07-28
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.