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Variant : CV162233 (GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1) Homo sapiens

Symbol: CV162233
Name: GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1
Condition: See cases [RCV000141023]
Clinical Significance: likely pathogenic
Last Evaluated: 01/21/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSS3   CSRP2   E2F7   LIN7A   LINC01490   LINC02424   LINC02426   LINC02464   MIR1252   MIR4699   MIR617   MIR618   MYF5   MYF6   NAV3   OTOGL   PAWR   PPFIA2   PPFIA2-AS1   PPP1R12A   PPP1R12A-AS1   PTPRQ   SYT1   ZDHHC17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_76566873)_(82021089_?)del
NC_000012.11:g.(?_76960653)_(82414868_?)del
NC_000012.10:g.(?_75484784)_(80938999_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381276,566,873 - 82,021,089CLINVAR
GRCh371276,960,653 - 82,414,868CLINVAR
Build 361275,484,784 - 80,938,999CLINVAR
Cytogenetic Map1212q21.2-21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488551
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.