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Variant : CV73241 (GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3) Homo sapiens

Symbol: CV73241
Name: GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3
Condition: Hydronephrosis [RCV000052422]|See cases [RCV000052422]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSF3   ADAD2   ADAMTS18   ADAT1   ANKRD11   AP1G1   APRT   ARLNC1   ATMIN   ATP2C2   ATP2C2-AS1   ATXN1L   BANP   BCAR1   BCO1   C16orf46   C16orf74   C16orf95   CA5A   CALB2   CBFA2T3   CDH13   CDH15   CDK10   CDT1   CDYL2   CENPBD1   CENPN   CFDP1   CHMP1A   CHST4   CHST5   CHST6   CLEC18B   CLEC3A   CMC2   CMIP   CMTR2   CNTNAP4   COG4   COTL1   COX4I1   CPHXL   CPNE7   CRISPLD2   CTRB1   CTRB2   CTU2   CYBA   DBNDD1   DEF8   DHODH   DHX38   DNAAF1   DPEP1   DUXB   DYNLRB2   EMC8   FA2H   FAM92B   FANCA   FBXO31   FENDRR   FOXC2   FOXC2-AS1   FOXF1   FOXL1   GABARAPL2   GALNS   GAN   GAS8   GAS8-AS1   GCSH   GINS2   GLG1   GSE1   HCCAT5   HP   HPR   HSBP1   HSD17B2   HSDL1   HYDIN   IL17C   IL34   IRF8   IST1   JPH3   KARS1   KCNG4   KIAA0513   KLHDC4   KLHL36   LDHD   LINC00304   LINC00311   LINC00917   LINC01081   LINC01082   LINC01227   LINC01229   LINC01568   LINC01572   LINC02125   LINC02131   LINC02135   LINC02136   LINC02138   LINC02139   LINC02166   LINC02176   LINC02181   LINC02182   LINC02188   LINC02189   LOC100289580   LOC339059   MAF   MAFTRR   MAP1LC3B   MARVELD3   MBTPS1   MC1R   MEAK7   MIR11401   MIR12128   MIR1910   MIR3182   MIR4719   MIR4720   MIR4722   MIR5093   MIR5189   MIR6504   MIR6774   MIR6775   MIR7854   MIR8058   MLKL   MLYCD   MON1B   MPHOSPH6   MTHFSD   MTSS2   MVD   NECAB2   NPIPB15   NUDT7   OSGIN1   PABPN1L   PHLPP2   PIEZO1   PKD1L2   PKD1L3   PLCG2   PMFBP1   PRDM7   PSMD7   RFWD3   RNF166   RPL13   SDR42E1   SF3B3   SLC22A31   SLC38A8   SLC7A5   SNAI3   SNAI3-AS1   SNORA119   SNORA70D   SNORD111   SNORD111B   SNORD68   SNORD71   SPATA2L   SPATA33   SPG7   SPIRE2   SYCE1L   TAF1C   TAT   TAT-AS1   TCF25   TERF2IP   TLE7   TMEM170A   TMEM231   TRAPPC2L   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRK-TTT1-1   TRM-CAT2-1   TRM-CAT6-1   TUBB3   TXNL4B   USP10   VAC14   VAC14-AS1   VAT1L   VPS9D1   VPS9D1-AS1   WDR59   WFDC1   WWOX   WWOX-AS1   ZC3H18   ZC3H18-AS1   ZCCHC14   ZDHHC7   ZFHX3   ZFP1   ZFPM1   ZNF19   ZNF23   ZNF276   ZNF469   ZNF778   ZNF821   ZNRF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_70514631)_(90081985_?)dup
NC_000016.9:g.(?_70548534)_(90148393_?)dup
NC_000016.8:g.(?_69106035)_(88675894_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381670,514,631 - 90,081,985CLINVAR
GRCh371670,548,534 - 90,148,393CLINVAR
Build 361669,106,035 - 88,675,894CLINVAR
Cytogenetic Map1616q22.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619409
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.