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Variant : CV73301 (GRCh38/hg38 Xq28(chrX:149722144-150242706)x2) Homo sapiens

Symbol: CV73301
Name: GRCh38/hg38 Xq28(chrX:149722144-150242706)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052489]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052489]|See cases [RCV000052489]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CXorf40B   HSFX1   HSFX4   LINC00850   LINC00894   MAGEA8   MAGEA8-AS1   MAGEA9   MIR2114  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.9:g.(?_148603335)_(149161588_?)dup
NC_000023.11:g.(?_149722144)_(150242706_?)dup
NW_004070890.2:g.(?_5246542)_(5744560_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X149,722,144 - 150,242,706CLINVAR
Build 36X148,603,335 - 149,161,588CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619469
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.