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Variant : CV159228 (GRCh38/hg38 3q29(chr3:194296197-198110198)x3) Homo sapiens

Symbol: CV159228
Name: GRCh38/hg38 3q29(chr3:194296197-198110198)x3
Condition: See cases [RCV000138492]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAP2   APOD   ATP13A3   BDH1   CEP19   CPN2   DLG1   DLG1-AS1   FAM43A   FBXO45   FYTTD1   GP5   IQCG   LINC00884   LINC00885   LINC00887   LINC01063   LINC01968   LINC01972   LINC01983   LINC02012   LMLN   LMLN-AS1   LRCH3   LRRC15   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.(?_194296197)_(198110198_?)dup
NC_000003.11:g.(?_194013986)_(197837069_?)dup
NC_000003.10:g.(?_195496680)_(199321466_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383194,296,197 - 198,110,198CLINVAR
GRCh373194,013,986 - 197,837,069CLINVAR
Build 363195,496,680 - 199,321,466CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486034
Created: 2014-09-09
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.