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Variant : CV43034 (GRCh38/hg38 3q29(chr3:196013486-197590232)x1) Homo sapiens

Symbol: CV43034
Name: GRCh38/hg38 3q29(chr3:196013486-197590232)x1
Condition: See cases [RCV000050878]
Clinical Significance: pathogenic|uncertain significance|conflicting data from submitters
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|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)_(197590232_?)del
NC_000003.11:g.(?_195740357)_(197317103_?)del
NC_000003.10:g.(?_197224754)_(198801500_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,013,486 - 197,590,232CLINVAR
GRCh373195,740,357 - 197,317,103CLINVAR
Build 363197,224,754 - 198,801,500CLINVAR
Cytogenetic Map33q29CLINVAR
Age Of Onset: neonatal/infancy



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617943
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.