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Variant : CV163065 (GRCh38/hg38 3q29(chr3:195998419-197629463)x3) Homo sapiens

Symbol: CV163065
Name: GRCh38/hg38 3q29(chr3:195998419-197629463)x3
Condition: See cases [RCV000141750]
Clinical Significance: conflicting data from submitters
Last Evaluated:
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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195998419)_(197629463_?)dup
NC_000003.11:g.(?_195725290)_(197356334_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,998,419 - 197,629,463CLINVAR
GRCh373195,725,290 - 197,356,334CLINVAR
Build 363197,209,687 - 198,840,731CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489273
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.