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Variant : CV162218 (GRCh38/hg38 3q29(chr3:196013486-197612399)x1) Homo sapiens

Symbol: CV162218
Name: GRCh38/hg38 3q29(chr3:196013486-197612399)x1
Condition: See cases [RCV000141008]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   DLG1-AS1   FBXO45   LINC00885   LINC01063   LINC02012   MELTF   MELTF-AS1   MIR4797   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_196013486)_(197612399_?)del
NC_000003.11:g.(?_195740357)_(197339270_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,013,486 - 197,612,399CLINVAR
GRCh373195,740,357 - 197,339,270CLINVAR
Build 363197,224,754 - 198,823,667CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488536
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.