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Variant : CV550833 (NC_000015.9:g.72958539_75569605del2611067) Homo sapiens

Symbol: CV550833
Name: NC_000015.9:g.72958539_75569605del2611067
Condition: not provided [RCV000677994]
Clinical Significance: pathogenic
Last Evaluated: 03/27/2018
Review Status: criteria provided, single submitter
Related Genes: ADPGK   ARID3B   BBS4   C15orf39   CCDC33   CD276   CLK3   COX5A   CPLX3   CSK   CYP11A1   CYP1A1   CYP1A2   EDC3   FAM219B   GOLGA6A   GOLGA6B   GOLGA6C   HCN4   INSYN1   ISLR   ISLR2   LMAN1L   LOXL1   MPI   NEO1   NPTN   PML   PPCDC   REC114   RPP25   SCAMP2   SCAMP5   SEMA7A   STOML1   STRA6   TBC1D21   UBL7   ULK3  
Variant Type: deletion (SO:0000159)
Evidence: provider interpretation
HGVS Name(s): NC_000015.9:g.72958539_75569605del2611067
Human AssemblyChrPosition (strand)Source
GRCh371572,958,539 - 75,569,605CLINVAR
Cytogenetic Map1515q24.1-24.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13790708
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


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