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Variant : CV72400 (GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1) Homo sapiens

Symbol: CV72400
Name: GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1
Condition: Global developmental delay [RCV000051545]|See cases [RCV000051545]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATG3   ATP6V1A   BOC   BTLA   CCDC191   CCDC80   CD200R1   CD200R1L   CD200R1L-AS1   CFAP44   CFAP44-AS1   DRD3   GAP43   GRAMD1C   GTPBP8   LINC02042   LINC02044   MIR4446   MIR4796   MIR568   MIR8076   MIR9900   NAA50   NEPRO   QTRT2   SIDT1   SLC35A5   SPICE1   TIGIT   USF3   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_112479482)_(115774102_?)del
NC_000003.11:g.(?_112198329)_(115492949_?)del
NC_000003.10:g.(?_113681019)_(116975639_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383112,479,482 - 115,774,102CLINVAR
GRCh373112,198,329 - 115,492,949CLINVAR
Build 363113,681,019 - 116,975,639CLINVAR
Cytogenetic Map33q13.2-13.31CLINVAR
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: 8618560
Created: 2014-05-13
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.