Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74090 (GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1) Homo sapiens

Symbol: CV74090
Name: GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1
Condition: Abnormality of head and neck [RCV000053337]|See cases [RCV000053337]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARS1   AP1G1   ATXN1L   CALB2   CDH1   CDH3   CHST4   CHTF8   CLEC18A   CLEC18C   CMTR2   COG4   COG8   CYB5B   DDX19A   DDX19B   DERPC   DHODH   DHX38   EXOSC6   FCSK   HAS3   HCCAT5   HP   HPR   HYDIN   IL34   IST1   LINC01568   LINC01572   LINC02136   MARVELD3   MIR140   MIR1538   MIR1972-2   MTSS2   NFAT5   NIP7   NOB1   NQO1   PDF   PDPR   PHLPP2   PKD1L3   PMFBP1   PSMD7   SF3B3   SNORA70D   SNORD111   SNORD111B   SNORD13H   SNORD71   SNTB2   ST3GAL2   TANGO6   TAT   TAT-AS1   TERF2   TLE7   TMED6   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRK-TTT1-1   TRM-CAT2-1   TXNL4B   UTP4   VAC14   VAC14-AS1   VPS4A   WWP2   ZFHX3   ZNF19   ZNF23   ZNF821  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_68698941)_(74353205_?)del
NC_000016.9:g.(?_68732844)_(74387103_?)del
NC_000016.8:g.(?_67290345)_(72944604_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381668,698,941 - 74,353,205CLINVAR
GRCh371668,732,844 - 74,387,103CLINVAR
Build 361667,290,345 - 72,944,604CLINVAR
Cytogenetic Map1616q22.1-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620274
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.