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Variant : CV595739 (GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1) Homo sapiens

Symbol: CV595739
Name: GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1
Condition: not provided [RCV000741039]
Clinical Significance: pathogenic
Last Evaluated: 12/12/2011
Review Status: no assertion criteria provided
Related Genes: ANO7   ATG4B   BOK   D2HGDH   DTYMK   FARP2   GAL3ST2   HDLBP   ING5   MTERF4   NEU4   PASK   PDCD1   PPP1R7   RTP5   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372241,847,589 - 243,101,834CLINVAR
Cytogenetic Map22q37.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14356413
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-02-20
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.