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Variant : CV74578 (GRCh38/hg38 3q29(chr3:195972720-197658495)x3) Homo sapiens

Symbol: CV74578
Name: GRCh38/hg38 3q29(chr3:195972720-197658495)x3
Condition: Recurrent respiratory infections [RCV000053855]|See cases [RCV000053855]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, 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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195972720)_(197658495_?)dup
NC_000003.11:g.(?_195699591)_(197385366_?)dup
NC_000003.10:g.(?_197183988)_(198869763_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,972,720 - 197,658,495CLINVAR
GRCh373195,699,591 - 197,385,366CLINVAR
Build 363197,183,988 - 198,869,763CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620770
Created: 2014-05-13
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.