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Variant : CV73667 (GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1) Homo sapiens

Symbol: CV73667
Name: GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1
Condition: See cases [RCV000052869]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AL008638.2   AP1B1   ASPHD2   C22orf31   CCDC117   CHEK2   CRYBA4   CRYBB1   EMID1   EWSR1   GAS2L1   HPS4   HSCB   KREMEN1   LINC01422   LINC01638   LINC02554   LOC100507599   LOC105372977   LOC108353816   LOC110091768   LOC110121337   LOC110121419   LOC111828507   LOC112694771   LOC112694772   LOC112695074   LOC112695075   LOC112695076   LOC116309128   LOC116309129   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR548J   MIR5739   MN1   PITPNB   RASL10A   RFPL1   RFPL1S   RHBDD3   SEZ6L   SEZ6L-AS1   SNORD125   SRRD   TFIP11   TPST2   TTC28   TTC28-AS1   XBP1   ZNRF3   ZNRF3-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_26221273)_(29477543_?)del
Human AssemblyChrPosition (strand)Source
GRCh382226,221,273 - 29,477,543CLINVAR
GRCh372226,617,239 - 29,873,532CLINVAR
Build 362224,947,239 - 28,203,532CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619839
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.