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

Variant : CV351947 (NM_002578.5(PAK3):c.601-3dup) Homo sapiens

Symbol: CV351947
Name: NM_002578.5(PAK3):c.601-3dup
Condition: Non-syndromic X-linked intellectual disability [RCV000270374]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PAK3  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_002578.5:c.601-3dup
NC_000023.11:g.111163559dup
NM_001324327.2:c.646-3dup
NM_001324328.2:c.646-3dup
NM_001324329.2:c.646-3dup
NM_001324333.2:c.646-3dup
NM_001128172.2:c.664-3dup
NM_001128168.3:c.709-3dup
NG_008288.2:g.224275dup
NC_000023.10:g.110406787dup
NM_002578.3:c.601-3dupT
NM_001128173.3:c.646-3dup
NM_002578.3:c.601-3dupT
NM_001128166.2:c.601-3dup
NM_001128167.2:c.601-3dup
NM_001324325.2:c.601-3dup
NM_001324326.2:c.601-3dup
NM_001324330.2:c.601-3dup
NM_001324331.2:c.601-3dup
NM_001324332.2:c.601-3dup
NM_001324334.2:c.601-3dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,163,552 - 111,163,553CLINVAR
GRCh37X110,406,780 - 110,406,781CLINVAR
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: 11626829
Created: 2017-01-11
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.