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

Variant : CV71791 (GRCh38/hg38 Xq28(chrX:153929344-154367160)x3) Homo sapiens

Symbol: CV71791
Name: GRCh38/hg38 Xq28(chrX:153929344-154367160)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050852]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050852]|See cases [RCV000050852]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FLNA   HCFC1   HCFC1-AS1   IRAK1   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   RENBP   TEX28   TKTL1   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153929344)_(154367160_?)dup
NC_000023.10:g.(?_153333946)_(153595528_?)dup
NC_000023.9:g.(?_152847991)_(153248722_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,929,344 - 154,367,160CLINVAR
GRCh37X153,333,946 - 153,595,528CLINVAR
Build 36X152,847,991 - 153,248,722CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617920
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-01
Status: ACTIVE



NHLBI Logo

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