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Variant : CV157136 (GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1) Homo sapiens

Symbol: CV157136
Name: GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1
Condition: See cases [RCV000136580]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARS1   CLEC18A   CLEC18C   COG8   CYB5B   EXOSC6   MIR140   MIR1538   MIR1972-2   NFAT5   NIP7   NOB1   NQO1   PDF   PDPR   SNORD13H   SNTB2   TERF2   TMED6   UTP4   VPS4A   WWP2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_69144650)_(70257882_?)del
NC_000016.9:g.(?_69178553)_(70291785_?)del
NC_000016.8:g.(?_67736054)_(68849286_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381669,144,650 - 70,257,882CLINVAR
GRCh371669,178,553 - 70,291,785CLINVAR
Build 361667,736,054 - 68,849,286CLINVAR
Cytogenetic Map1616q22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484141
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.