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Variant : CV420989 (NC_000002.11:g.38121110_47669522inv) Homo sapiens

Symbol: CV420989
Name: NC_000002.11:g.38121110_47669522inv
Condition: Lynch syndrome [RCV000494356]
Clinical Significance: pathogenic
Last Evaluated: 07/28/2016
Review Status: criteria provided, single submitter
Related Genes: ABCG5   ABCG8   ARHGEF33   ATL2   ATP6V1E2   BCYRN1   C2orf91   CALM2   CAMKMT   CDKL4   COX7A2L   CRIPT   CYP1B1   DHX57   DYNC2LI1   EML4   EPAS1   EPCAM   GALM   GEMIN6   HAAO   HNRNPLL   KCNG3   LRPPRC   MAP4K3   MCFD2   MORN2   MSH2   MTA3   OXER1   PIGF   PKDCC   PLEKHH2   PPM1B   PREPL   PRKCE   RHOQ   RMDN2   SIX2   SIX3   SLC3A1   SLC8A1   SOCS5   SOS1   SOS1-IT1   SRBD1   SRSF7   STPG4   THADA   THUMPD2   TMEM178A   TMEM247   TTC7A   ZFP36L2  
Variant Type: inversion (SO:1000036)
Evidence: clinical testing
HGVS Name(s): NC_000002.11:g.38121110_47669522inv
Human AssemblyChrPosition (strand)Source
GRCh37238,121,110 - 47,669,522CLINVAR
Cytogenetic Map22p22.2-21CLINVAR
Trait Synonyms: Hereditary nonpolyposis colon cancer

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12913866
Created: 2017-07-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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