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Variant : CV154198 (GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1) Homo sapiens

Symbol: CV154198
Name: GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1
Condition: See cases [RCV000133929]
Clinical Significance: pathogenic
Last Evaluated: 03/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAD2   ATP2C2   ATP2C2-AS1   CDH13   COTL1   CRISPLD2   DNAAF1   HSBP1   HSDL1   KCNG4   KLHL36   MBTPS1   MEAK7   MIR3182   MLYCD   NECAB2   OSGIN1   SLC38A8   TAF1C   USP10   WFDC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_83399060)_(84908120_?)del
NC_000016.9:g.(?_83432665)_(84941726_?)del
NC_000016.8:g.(?_81990166)_(83499227_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381683,399,060 - 84,908,120CLINVAR
GRCh371683,432,665 - 84,941,726CLINVAR
Build 361681,990,166 - 83,499,227CLINVAR
Cytogenetic Map1616q23.3-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481514
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.