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

Variant : CV40621 (GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1) Homo sapiens

Symbol: CV40621
Name: GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1
Condition: See cases [RCV000050595]
Clinical Significance: pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29581462)_(30179247_?)del
NC_000016.9:g.(?_29592783)_(30190568_?)del
NC_000016.8:g.(?_29500284)_(30098069_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,581,462 - 30,179,247CLINVAR
GRCh371629,592,783 - 30,190,568CLINVAR
Build 361629,500,284 - 30,098,069CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000|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: 8617707
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE



NHLBI Logo

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