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Variant : CV383673 (GRCh37/hg19 3q29(chr3:195456034-197851986)x3) Homo sapiens

Symbol: CV383673
Name: GRCh37/hg19 3q29(chr3:195456034-197851986)x3
Condition: See cases [RCV000448647]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   FBXO45   FYTTD1   IQCG   LMLN   LRCH3   MELTF   MUC20   MUC4   NCBP2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TNK2   TNK2-AS1   UBXN7   WDR53   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373195,456,034 - 197,851,986CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853352
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.