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Variant : CV72169 (GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1) Homo sapiens

Symbol: CV72169
Name: GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1
Condition: Seizure [RCV000051303]|See cases [RCV000051303]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCL24   CCL26   DTX2   HIP1   HSPB1   MDH2   MIR4651   POR   RHBDD2   SNORA14A   SPDYE16   SRRM3   SSC4D   STYXL1   TMEM120A   UPK3B   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_75567961)_(76584901_?)del
NC_000007.13:g.(?_75197265)_(76214218_?)del
NC_000007.12:g.(?_75035201)_(76052154_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38775,567,961 - 76,584,901CLINVAR
GRCh37775,197,265 - 76,214,218CLINVAR
Build 36775,035,201 - 76,052,154CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618328
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.