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Variant : CV41354 (GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1) Homo sapiens

Symbol: CV41354
Name: GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
Condition: See cases [RCV000053082]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 09/16/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: CCDC116   IGL   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   LL22NC03-63E9.3   LOC108491837   LOC110121474   LOC112694768   MAPK1   MIR130B   MIR301B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RIMBP3C   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21454661)_(22562663_?)del
NC_000022.10:g.(?_21808950)_(22905068_?)del
NC_000022.9:g.(?_20138950)_(21235068_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,454,661 - 22,562,663CLINVAR
GRCh372221,808,950 - 22,905,068CLINVAR
Build 362220,138,950 - 21,235,068CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620030
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.