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Variant : CV164786 (GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1) Homo sapiens

Symbol: CV164786
Name: GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1
Condition: See cases [RCV000143099]
Clinical Significance: pathogenic
Last Evaluated: 02/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSS3   ALX1   ATP2B1   ATP2B1-AS1   ATXN7L3B   BBS10   BTG1   C12orf29   C12orf50   CAPS2   CCDC59   CCER1   CEP290   CLLU1   CLLU1-AS1   CSRP2   DCN   DUSP6   E2F7   EEA1   EPYC   GALNT4   GLIPR1   GLIPR1L1   GLIPR1L2   KCNC2   KERA   KITLG   KRR1   LIN7A   LINC00615   LINC01490   LINC01619   LINC02258   LINC02392   LINC02394   LINC02397   LINC02399   LINC02404   LINC02424   LINC02426   LINC02445   LINC02458   LINC02464   LINC02820   LINC02823   LINC02882   LNCOG   LRRIQ1   LUM   METTL25   MGAT4C   MIR1252   MIR3059   MIR4699   MIR617   MIR618   MYF5   MYF6   NAP1L1   NAV3   NTS   OSBPL8   OTOGL   PAWR   PHLDA1   PLEKHG7   POC1B   POC1B-AS1   POC1B-GALNT4   PPFIA2   PPFIA2-AS1   PPP1R12A   PPP1R12A-AS1   PTPRQ   RASSF9   SLC6A15   SYT1   TMTC2   TMTC3   TSPAN19   ZDHHC17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_73485697)_(92795805_?)del
NC_000012.11:g.(?_73879477)_(93189581_?)del
NC_000012.10:g.(?_72165744)_(91713712_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381273,485,697 - 92,795,805CLINVAR
GRCh371273,879,477 - 93,189,581CLINVAR
Build 361272,165,744 - 91,713,712CLINVAR
Cytogenetic Map1212q21.1-22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490697
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.