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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: Ptosis [RCV000052869]|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: AP1B1   ASPHD2   C22orf31   CCDC117   CHEK2   CRYBA4   CRYBB1   EMID1   EWSR1   GAS2L1   HPS4   HSCB   KREMEN1   LINC01422   LINC01638   LINC02554   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR548J   MIR5739   MN1   PITPNB   RASL10A   RFPL1   RFPL1S   RHBDD3   SEZ6L   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
CRRD Object Information
CRRD ID: 8619839
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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