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Variant : CV157499 (GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3) Homo sapiens

Symbol: CV157499
Name: GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3
Condition: See cases [RCV000136898]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSF3   ADAD2   ANKRD11   APRT   ATMIN   ATP2C2   ATP2C2-AS1   BANP   BCO1   C16orf46   C16orf74   C16orf95   CA5A   CBFA2T3   CDH13   CDH15   CDK10   CDT1   CENPBD1   CENPN   CHMP1A   CIBAR2   CMC2   CMIP   COTL1   COX4I1   CPNE7   CRISPLD2   CTU2   CYBA   DBNDD1   DEF8   DNAAF1   DPEP1   EMC8   FANCA   FBXO31   FENDRR   FOXC2   FOXC2-AS1   FOXF1   FOXL1   GALNS   GAN   GAS8   GAS8-AS1   GCSH   GINS2   GSE1   HSBP1   HSD17B2   HSDL1   IL17C   IRF8   JPH3   KCNG4   KIAA0513   KLHDC4   KLHL36   LINC00304   LINC00311   LINC00917   LINC01081   LINC01082   LINC02135   LINC02138   LINC02139   LINC02166   LINC02176   LINC02181   LINC02182   LINC02188   LINC02189   LOC100289580   LOC339059   MAP1LC3B   MBTPS1   MC1R   MEAK7   MIR11401   MIR12128   MIR1910   MIR3182   MIR4720   MIR4722   MIR5093   MIR5189   MIR6504   MIR6774   MIR6775   MIR7854   MIR8058   MLYCD   MPHOSPH6   MTHFSD   MVD   NECAB2   OSGIN1   PABPN1L   PIEZO1   PKD1L2   PLCG2   PRDM7   RNF166   RPL13   SDR42E1   SLC22A31   SLC38A8   SLC7A5   SNAI3   SNAI3-AS1   SNORA119   SNORD68   SPATA2L   SPATA33   SPG7   SPIRE2   TAF1C   TCF25   TRAPPC2L   TRM-CAT6-1   TUBB3   USP10   VPS9D1   VPS9D1-AS1   WFDC1   ZC3H18   ZC3H18-AS1   ZCCHC14   ZDHHC7   ZFPM1   ZNF276   ZNF469   ZNF778  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_80946659)_(90081985_?)dup
NC_000016.9:g.(?_80980556)_(90148393_?)dup
NC_000016.8:g.(?_79538057)_(88675894_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381680,946,659 - 90,081,985CLINVAR
GRCh371680,980,556 - 90,148,393CLINVAR
Build 361679,538,057 - 88,675,894CLINVAR
Cytogenetic Map1616q23.2-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484459
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.