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

Variant : CV71942 (GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1) Homo sapiens

Symbol: CV71942
Name: GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051034]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051034]|See cases [RCV000051034]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP17A   ANOS1   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CLCN4   CLDN34   CRLF2   CSF2RA   DHRSX   FAM9A   FAM9B   GPR143   GTPBP6   GYG2   HCCS   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MID1   MIR3690   MIR4767   MIR4770   MIR6089   MIR651   MXRA5   NLGN4X   P2RY8   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PUDP   SHOX   SHROOM2   SLC25A6   SNORA48B   STS   TBL1X   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   WWC3   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_10679)_(11240163_?)del
NC_000023.10:g.(?_60679)_(11258283_?)del
NC_000023.9:g.(?_679)_(11168204_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X10,679 - 11,240,163CLINVAR
GRCh37X60,679 - 11,258,283CLINVAR
Build 36X679 - 11,168,204CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618084
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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