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Variant : CV73669 (GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1) Homo sapiens

Symbol: CV73669
Name: GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052871]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052871]|See cases [RCV000052871]
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   ASCC2   C22orf31   CABP7   CCDC117   CHEK2   EMID1   EWSR1   GAS2L1   HORMAD2   HORMAD2-AS1   HSCB   KREMEN1   LIF   LIF-AS1   MIR5739   MIR6818   MTMR3   NEFH   NF2   NIPSNAP1   OSM   RASL10A   RFPL1   RFPL1S   RHBDD3   SNORD125   THOC5   TTC28   UQCR10   XBP1   ZMAT5   ZNRF3   ZNRF3-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_28441035)_(30276511_?)del
NC_000022.10:g.(?_28837023)_(30672500_?)del
NC_000022.9:g.(?_27167023)_(29002500_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382228,441,035 - 30,276,511CLINVAR
GRCh372228,837,023 - 30,672,500CLINVAR
Build 362227,167,023 - 29,002,500CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619841
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.