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Variant : CV74280 (GRCh38/hg38 3q29(chr3:195711798-197976152)x3) Homo sapiens

Symbol: CV74280
Name: GRCh38/hg38 3q29(chr3:195711798-197976152)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053540]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053540]|See cases [RCV000053540]
Clinical Significance: 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   FYTTD1   IQCG   LINC00885   LINC01063   LINC01983   LINC02012   LMLN   LRCH3   MELTF   MELTF-AS1   MIR4797   MIR570HG   MIR6829   MIR922   MUC20   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TNK2   TNK2-AS1   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195711798)_(197976152_?)dup
NC_000003.11:g.(?_195438669)_(197703023_?)dup
NC_000003.10:g.(?_196924340)_(199187420_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,711,798 - 197,976,152CLINVAR
GRCh373195,438,669 - 197,703,023CLINVAR
Build 363196,924,340 - 199,187,420CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620467
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.