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Variant : CV74987 (GRCh38/hg38 Xq27.3(chrX:143118423-143816291)x3) Homo sapiens

Symbol: CV74987
Name: GRCh38/hg38 Xq27.3(chrX:143118423-143816291)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054283]|See cases [RCV000054283]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: SLITRK4   SPANXN2   SPANXN3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_143118423)_(143816291_?)dup
NC_000023.10:g.(?_142206209)_(142899386_?)dup
NC_000023.9:g.(?_142033875)_(142727052_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X143,118,423 - 143,816,291CLINVAR
GRCh37X142,206,209 - 142,899,386CLINVAR
Build 36X142,033,875 - 142,727,052CLINVAR
Cytogenetic MapXXq27.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621181
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.