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Variant : CV614623 (Single allele) Homo sapiens

Symbol: CV614623
Name: Single allele
Condition: not provided [RCV000768458]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG1   ADARB1   AGPAT3   AIRE   C21orf58   C2CD2   CBS   CFAP410   COL18A1   COL6A1   COL6A2   CRYAA   CSTB   DIP2A   DNMT3L   FAM207A   FTCD   GATD3A   HSF2BP   ICOSLG   ITGB2   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LINC00163   LINC00315   LINC00334   LRRC3   LSS   MCM3AP   NDUFV3   PCBP3   PCNT   PDE9A   PDXK   PFKL   PKNOX1   POFUT2   PRDM15   PRMT2   PTTG1IP   PWP2   RIPK4   RRP1   RRP1B   RSPH1   S100B   SIK1   SLC19A1   SLC37A1   SPATC1L   SUMO3   TFF1   TFF2   TFF3   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   U2AF1   UBASH3A   UBE2G2   UMODL1   WDR4   YBEY   ZBTB21  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: case-control
Position
Human AssemblyChrPosition (strand)Source
GRCh372143,010,560 - 48,093,051CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399340
Created: 2019-05-07
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.