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Variant : CV73304 (GRCh38/hg38 Xq28(chrX:153504314-154144797)x2) Homo sapiens

Symbol: CV73304
Name: GRCh38/hg38 Xq28(chrX:153504314-154144797)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052492]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052492]|See cases [RCV000052492]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD1   ARHGAP4   ATP2B3   AVPR2   BCAP31   BGN   CCNQ   DUSP9   HCFC1   HCFC1-AS1   IDH3G   IRAK1   L1CAM   MECP2   MIR3202-1   MIR3202-2   MIR718   NAA10   OPN1LW   PDZD4   PLXNB3   PNCK   RENBP   SLC6A8   SRPK3   SSR4   TMEM187  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153504314)_(154144797_?)dup
NW_003871103.3:g.(?_938297)_(1502473_?)dup
NC_000023.9:g.(?_152422966)_(153063464_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,504,314 - 154,144,797CLINVAR
Build 36X152,422,966 - 153,063,464CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619472
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.