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Variant : CV216089 (GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1) Homo sapiens

Symbol: CV216089
Name: GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1
Condition: See cases [RCV000203439]
Clinical Significance: likely pathogenic
Last Evaluated: 10/01/2015
Review Status: criteria provided, single submitter
Related Genes: ADAD2   ATP2C2   C16orf74   CDH13   CIBAR2   COTL1   COX4I1   CRISPLD2   DNAAF1   EMC8   GINS2   GSE1   HSBP1   HSDL1   IRF8   KCNG4   KIAA0513   KLHL36   MBTPS1   MEAK7   MLYCD   NECAB2   OSGIN1   SLC38A8   TAF1C   USP10   WFDC1   ZDHHC7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371683,553,094 - 86,098,013CLINVAR
Cytogenetic Map1616q23.3-24.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10766516
Created: 2016-02-09
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.