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Variant : CV154083 (GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1) Homo sapiens

Symbol: CV154083
Name: GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1
Condition: See cases [RCV000133814]
Clinical Significance: pathogenic
Last Evaluated: 12/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC009078.2   AC009119.1   AC009123.1   AC010547.3   AC099506.1   AC125793.1   AC138627.1   ADAD2   ADAMTS18   ADAT1   AP1G1   ARLNC1   ATMIN   ATP2C2   ATP2C2-AS1   ATXN1L   BCAR1   BCO1   C16orf46   CALB2   CDH13   CDYL2   CENPN   CFDP1   CHST4   CHST5   CHST6   CLEC18B   CLEC3A   CMC2   CMIP   CMTR2   CNTNAP4   COG4   COTL1   CPHXL   CRISPLD2   CTRB1   CTRB2   DHODH   DHX38   DNAAF1   DUXB   DYNLRB2   FA2H   FCSK   GABARAPL2   GAN   GCSH   GLG1   HCCAT5   HP   HPR   HSBP1   HSD17B2   HSDL1   HYDIN   IL34   IST1   KARS1   KCNG4   KLHL36   LDHD   LINC01227   LINC01229   LINC01568   LINC01572   LINC02125   LINC02131   LINC02136   MAF   MAFTRR   MARVELD3   MBTPS1   MEAK7   MIR3182   MIR4719   MIR4720   MIR6504   MIR7854   MIR8058   MLKL   MLYCD   MON1B   MPHOSPH6   MTSS2   NECAB2   NPIPB15   NUDT7   OSGIN1   PHLPP2   PKD1L2   PKD1L3   PLCG2   PMFBP1   PSMD7   RFWD3   SDR42E1   SF3B3   SLC38A8   SNORA70D   SNORD111   SNORD111B   SNORD71   ST3GAL2   SYCE1L   TAF1C   TAT   TAT-AS1   TERF2IP   TLE7   TMEM170A   TMEM231   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRK-TTT1-1   TRM-CAT2-1   TXNL4B   USP10   VAC14   VAC14-AS1   VAT1L   WDR59   WFDC1   WWOX   WWOX-AS1   ZFHX3   ZFP1   ZNF19   ZNF23   ZNF821   ZNRF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_70414573)_(84908120_?)del
NC_000016.9:g.(?_70448476)_(84941726_?)del
NC_000016.8:g.(?_69005977)_(83499227_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381670,414,573 - 84,908,120CLINVAR
GRCh371670,448,476 - 84,941,726CLINVAR
Build 361669,005,977 - 83,499,227CLINVAR
Cytogenetic Map1616q22.1-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481399
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.