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Variant : CV160228 (GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1) Homo sapiens

Symbol: CV160228
Name: GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1
Condition: See cases [RCV000139325]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACADL   C2orf80   CCNYL1   CPS1   CPS1-IT1   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   FZD5   IDH1   IDH1-AS1   KANSL1L   KANSL1L-AS1   KLF7   LANCL1   LANCL1-AS1   LINC01802   LINC01857   MAP2   METTL21A   MIR1302-4   MIR2355   MIR4775   MIR7845   MYL1   MYOSLID   MYOSLID-AS1   PIKFYVE   PLEKHM3   PTH2R   RPE   UNC80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_207058886)_(211245603_?)del
NC_000002.11:g.(?_207923610)_(212110328_?)del
NC_000002.10:g.(?_207631855)_(211818573_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382207,058,886 - 211,245,603CLINVAR
GRCh372207,923,610 - 212,110,328CLINVAR
Build 362207,631,855 - 211,818,573CLINVAR
Cytogenetic Map22q33.3-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486856
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.