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Variant : CV153894 (GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1) Homo sapiens

Symbol: CV153894
Name: GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1
Condition: See cases [RCV000133625]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADIPOR1   ARL8A   ASCL5   CACNA1S   CAMSAP2   CSRP1   CYB5R1   DDX59   DDX59-AS1   ELF3   ELF3-AS1   GPR25   GPR37L1   IGFN1   INAVA   IPO9   IPO9-AS1   KDM5B   KIF14   KIF21B   KLHL12   LAD1   LGR6   LINC00862   LMOD1   MIR1231   MIR5191   MIR6739   MIR6740   MYOG   MYOPARR   NAV1   NR5A2   PCAT6   PHLDA3   PKP1   PPFIA4   PPP1R12B   PTPN7   RABIF   RNPEP   SHISA4   SNORA70H   SYT2   TIMM17A   TMEM183A   TMEM9   TNNI1   TNNT2   UBE2T   ZNF281  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_200144603)_(203112078_?)del
NC_000001.10:g.(?_200113731)_(203081206_?)del
NC_000001.9:g.(?_198380354)_(201347829_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381200,144,603 - 203,112,078CLINVAR
GRCh371200,113,731 - 203,081,206CLINVAR
Build 361198,380,354 - 201,347,829CLINVAR
Cytogenetic Map11q32.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481210
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.