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

Variant : CV352714 (NM_002578.5(PAK3):c.*452del) Homo sapiens

Symbol: CV352714
Name: NM_002578.5(PAK3):c.*452del
Condition: Non-syndromic X-linked intellectual disability [RCV000330766]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PAK3  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001324334.2:c.*452del
NM_002578.5:c.*452del
NM_001128166.2:c.*452del
NM_001128167.2:c.*452del
NM_001324333.2:c.*452del
NM_002578.3:c.*452delA
NM_001128168.3:c.*452del
NM_001128172.2:c.*452del
NM_001128173.3:c.*452del
NM_001324325.2:c.*452del
NM_001324326.2:c.*452del
NM_001324327.2:c.*452del
NM_001324328.2:c.*452del
NM_001324329.2:c.*452del
NM_001324330.2:c.*452del
NM_001324331.2:c.*452del
NM_001324332.2:c.*452del
NG_008288.2:g.281615del
NC_000023.11:g.111220899del
NC_000023.10:g.110464127del
NR_136748.1:n.2375del
NR_136747.2:n.2691del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,220,890 - 111,220,890CLINVAR
GRCh37X110,464,118 - 110,464,118CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Mental retardation, nonsyndromic, X-linked; X-linked non-specific intellectual disability



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11629695
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE



NHLBI Logo

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