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Variant : CV73152 (GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3) Homo sapiens

Symbol: CV73152
Name: GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052326]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052326]|See cases [RCV000052326]
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   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CRLF2   CSF2RA   DHRSX   GTPBP6   GYG2   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MIR3690   MIR6089   MXRA5   P2RY8   PLCXD1   PPP2R3B   PRKX   PRKX-AS1   SHOX   SLC25A6   SNORA48B   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   XG   ZBED1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_40904)_(4469489_?)dup
NC_000023.10:g.(?_90904)_(4387530_?)dup
NC_000023.9:g.(?_30904)_(4397530_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X40,904 - 4,469,489CLINVAR
GRCh37X90,904 - 4,387,530CLINVAR
Build 36X30,904 - 4,397,530CLINVAR
Cytogenetic MapXXp22.33-22.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619319
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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