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Variant : CV160580 (GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1) Homo sapiens

Symbol: CV160580
Name: GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1
Condition: See cases [RCV000139629]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM23   C2orf80   CCNYL1   CPO   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   DYTN   EEF1B2   FAM237A   FASTKD2   FZD5   GPR1   GPR1-AS   IDH1   IDH1-AS1   INO80D   KANSL1L   KANSL1L-AS1   KLF7   LINC01802   LINC01857   MAP2   MDH1B   METTL21A   MIR1302-4   MIR2355   MIR3130-1   MIR3130-2   MIR4775   MIR7845   MYOSLID   MYOSLID-AS1   NDUFS1   NRP2   PARD3B   PIKFYVE   PLEKHM3   PTH2R   RPE   SNORA41   SNORD51   UNC80   ZDBF2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_204906843)_(210031449_?)del
NC_000002.11:g.(?_205771566)_(210896173_?)del
NC_000002.10:g.(?_205479811)_(210604418_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382204,906,843 - 210,031,449CLINVAR
GRCh372205,771,566 - 210,896,173CLINVAR
Build 362205,479,811 - 210,604,418CLINVAR
Cytogenetic Map22q33.3-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487160
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.