Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72595 (GRCh38/hg38 3q29(chr3:194424496-198168758)x3) Homo sapiens

Symbol: CV72595
Name: GRCh38/hg38 3q29(chr3:194424496-198168758)x3
Condition: See cases [RCV000051742]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP2   APOD   ATP13A3   BDH1   CEP19   DLG1   DLG1-AS1   FAM157A   FAM43A   FBXO45   FYTTD1   IQCG   LINC00884   LINC00885   LINC01063   LINC01968   LINC01972   LINC01983   LINC02012   LMLN   LMLN-AS1   LRCH3   LSG1   MELTF   MELTF-AS1   MIR3137   MIR4797   MIR570   MIR570HG   MIR6829   MIR922   MUC20   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   PPP1R2   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM44   TMEM44-AS1   TNK2   TNK2-AS1   UBXN7   UBXN7-AS1   WDR53   XXYLT1   XXYLT1-AS1   XXYLT1-AS2   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_194424496)_(198168758_?)dup
NC_000003.11:g.(?_194145225)_(197895629_?)dup
NC_000003.10:g.(?_195626514)_(199380026_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383194,424,496 - 198,168,758CLINVAR
GRCh373194,145,225 - 197,895,629CLINVAR
Build 363195,626,514 - 199,380,026CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618755
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.