Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73884 (GRCh38/hg38 3q29(chr3:196035777-197625573)x1) Homo sapiens

Symbol: CV73884
Name: GRCh38/hg38 3q29(chr3:196035777-197625573)x1
Condition: Global developmental delay [RCV000053115]|See cases [RCV000053115]
Clinical Significance: pathogenic
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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_196035777)_(197625573_?)del
NC_000003.11:g.(?_195762648)_(197352444_?)del
NC_000003.10:g.(?_197247045)_(198836841_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,035,777 - 197,625,573CLINVAR
GRCh373195,762,648 - 197,352,444CLINVAR
Build 363197,247,045 - 198,836,841CLINVAR
Cytogenetic Map33q29CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620062
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.