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Variant : CV652157 (NC_000011.9:g.(?_118007722)_(119170511_?)del) Homo sapiens

Symbol: CV652157
Name: NC_000011.9:g.(?_118007722)_(119170511_?)del
Condition: Long QT syndrome 10 [RCV000816632]
Clinical Significance: uncertain significance
Last Evaluated: 07/30/2018
Review Status: criteria provided, single submitter
Related Genes: ABCG4   ARCN1   ATP5MG   BCL9L   C2CD2L   CBL   CCDC153   CCDC84   CD3D   CD3E   CD3G   CXCR5   DDX6   DPAGT1   FOXR1   H2AX   HINFP   HMBS   HYOU1   IFT46   JAML   KMT2A   MPZL2   MPZL3   NLRX1   PDZD3   PHLDB1   RPS25   SCN2B   SCN4B   SLC37A4   TMEM25   TRAPPC4   TREH   TTC36   UBE4A   UPK2   VPS11  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_118007722)_(119170511_?)del
Human AssemblyChrPosition (strand)Source
GRCh3711118,007,722 - 119,170,511CLINVAR
Cytogenetic Map1111q23.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14711113
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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