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Variant : CV384361 (GRCh37/hg19 3q29(chr3:195690227-197356334)x1) Homo sapiens

Symbol: CV384361
Name: GRCh37/hg19 3q29(chr3:195690227-197356334)x1
Condition: See cases [RCV000446216]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   FBXO45   MELTF   NCBP2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   UBXN7   WDR53   ZDHHC19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373195,690,227 - 197,356,334CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850943
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-31
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.