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Variant : CV554048 (GRCh37/hg19 3q29(chr3:195703615-197348575)x1) Homo sapiens

Symbol: CV554048
Name: GRCh37/hg19 3q29(chr3:195703615-197348575)x1
Condition: not provided [RCV000682353]
Clinical Significance: pathogenic
Last Evaluated: 05/31/2018
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
GRCh373195,703,615 - 197,348,575CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795148
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.