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Variant : CV571130 (NC_000020.10:g.(?_31996293)_(33761838_?)del) Homo sapiens

Symbol: CV571130
Name: NC_000020.10:g.(?_31996293)_(33761838_?)del
Condition: Long QT syndrome [RCV000708204]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: ACSS2   ACTL10   AHCY   ASIP   C20orf144   CBFA2T2   CHMP4B   DYNLRB1   E2F1   EDEM2   EIF2S2   GGT7   GSS   ITCH   MAP1LC3A   MIR499A   MYH7B   NCOA6   NECAB3   PIGU   PROCR   PXMP4   RALY   SNTA1   TP53INP2   TRPC4AP   ZNF341  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.10:g.(?_31996293)_(33761838_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh372031,996,293 - 33,761,838CLINVAR
Cytogenetic Map2020q11.21-11.22CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13819266
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-09-22
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.