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Variant : CV73338 (GRCh38/hg38 Xq28(chrX:153932045-155611794)x3) Homo sapiens

Symbol: CV73338
Name: GRCh38/hg38 Xq28(chrX:153932045-155611794)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052529]|See cases [RCV000052529]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATP6AP1   BRCC3   CLIC2   CMC4   CTAG1A   CTAG1B   CTAG2   DKC1   DNASE1L1   EMD   F8   F8A1   F8A2   F8A3   FAM223A   FAM223B   FAM3A   FAM50A   FLNA   FUNDC2   G6PD   GAB3   GDI1   H2AB1   H2AB2   H2AB3   HCFC1   HCFC1-AS1   IKBKG   IRAK1   LAGE3   MECP2   MIR1184-1   MIR1184-2   MIR1184-3   MIR3202-1   MIR3202-2   MIR664B   MIR6858   MIR718   MPP1   MTCP1   NAA10   OPN1LW   OPN1MW   OPN1MW2   OPN1MW3   PLXNA3   RAB39B   RENBP   RPL10   SLC10A3   SMIM9   SNORA36A   SNORA56   SNORA70   TAZ   TEX28   TKTL1   TMEM187   TMLHE   TMLHE-AS1   UBL4A   VBP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153932045)_(155611794_?)dup
NW_003871103.3:g.(?_1366026)_(3045773_?)dup
NC_000023.9:g.(?_152850692)_(154494649_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,932,045 - 155,611,794CLINVAR
Build 36X152,850,692 - 154,494,649CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619506
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.