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Variant : CV159431 (GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1) Homo sapiens

Symbol: CV159431
Name: GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1
Condition: See cases [RCV000138659]
Clinical Significance: likely pathogenic
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BTG1   C12orf74   CEP83   CEP83-DT   CLLU1   CLLU1-AS1   CRADD   DCN   EEA1   EPYC   KERA   LINC01619   LINC02397   LINC02404   LINC02412   LINC02413   LINC02823   LUM   MIR492   MIR5700   MIR7844   MRPL42   NUDT4   PLEKHG7   PLXNC1   SOCS2   SOCS2-AS1   TMCC3   UBE2N  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_90996508)_(94872818_?)del
NC_000012.11:g.(?_91390285)_(95266594_?)del
NC_000012.10:g.(?_89914416)_(93790725_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381290,996,508 - 94,872,818CLINVAR
GRCh371291,390,285 - 95,266,594CLINVAR
Build 361289,914,416 - 93,790,725CLINVAR
Cytogenetic Map1212q21.33-22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486196
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.