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Variant : CV73204 (GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3) Homo sapiens

Symbol: CV73204
Name: GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052384]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052384]|See cases [RCV000052384]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCLAF3   EIF1AX   EIF1AX-AS1   MAP7D2   MIR23C   RPS6KA3   SCARNA9L   SH3KBP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_19624798)_(20573750_?)dup
NC_000023.10:g.(?_19642916)_(20591868_?)dup
NC_000023.9:g.(?_19552837)_(20501789_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X19,624,798 - 20,573,750CLINVAR
GRCh37X19,642,916 - 20,591,868CLINVAR
Build 36X19,552,837 - 20,501,789CLINVAR
Cytogenetic MapXXp22.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619372
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.