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Variant : CV74919 (GRCh38/hg38 Xq12-13.1(chrX:68126762-68820618)x3) Homo sapiens

Symbol: CV74919
Name: GRCh38/hg38 Xq12-13.1(chrX:68126762-68820618)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054200]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054200]|See cases [RCV000054200]
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: OPHN1   STARD8   YIPF6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_68126762)_(68820618_?)dup
NC_000023.10:g.(?_67346604)_(68040461_?)dup
NC_000023.9:g.(?_67263329)_(67957186_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X68,126,762 - 68,820,618CLINVAR
GRCh37X67,346,604 - 68,040,461CLINVAR
Build 36X67,263,329 - 67,957,186CLINVAR
Cytogenetic MapXXq12-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621111
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.