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Variant : CV73505 (GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1) Homo sapiens

Symbol: CV73505
Name: GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1
Condition: Low-set ears [RCV000052702]|See cases [RCV000052702]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ATG4B   BOK   BOK-AS1   CAPN10   CAPN10-DT   COPS9   CROCC2   D2HGDH   DTYMK   DUSP28   FARP2   GAL3ST2   GPC1   GPR35   HDLBP   ING5   KIF1A   LINC01237   LINC01238   LINC01880   LOC285097   MAB21L4   MIR149   MIR3133   MTERF4   NEU4   OTOS   PASK   PDCD1   PPP1R7   RNPEPL1   RTP5   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_240067206)_(242086301_?)del
NC_000002.11:g.(?_241006623)_(243028452_?)del
NC_000002.10:g.(?_240655296)_(242677125_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382240,067,206 - 242,086,301CLINVAR
GRCh372241,006,623 - 243,028,452CLINVAR
Build 362240,655,296 - 242,677,125CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619677
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.