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Variant : CV73858 (GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1) Homo sapiens

Symbol: CV73858
Name: GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053086]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053086]|See cases [RCV000053086]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_32432957)_(32823439_?)del
NC_000023.10:g.(?_32451074)_(32841556_?)del
NC_000023.9:g.(?_32360995)_(32751477_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X32,432,957 - 32,823,439CLINVAR
GRCh37X32,451,074 - 32,841,556CLINVAR
Build 36X32,360,995 - 32,751,477CLINVAR
Cytogenetic MapXXp21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620034
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.