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Variant : CV73880 (GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1) Homo sapiens

Symbol: CV73880
Name: GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]|Gastroschisis [RCV000053111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]|See cases [RCV000053110]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCR   GNAZ   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL5   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-27   IGLV3-9   IGLV4-3   MIR5571   MIR650   RAB36   RSPH14  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_22660238)_(23305976_?)del
NC_000022.10:g.(?_23002708)_(23648163_?)del
NC_000022.9:g.(?_21332708)_(21978163_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382222,660,238 - 23,305,976CLINVAR
GRCh372223,002,708 - 23,648,163CLINVAR
Build 362221,332,708 - 21,978,163CLINVAR
Cytogenetic Map2222q11.22-11.23CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620058
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.