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Variant : CV73221 (GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3) Homo sapiens

Symbol: CV73221
Name: GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3
Condition: Global developmental delay [RCV000052401]|See cases [RCV000052401]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALDOA   APOBR   AQP8   ARHGAP17   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf82   C16orf92   CACNG3   CD19   CD2BP2   CD2BP2-DT   CDIPT   CDIPTOSP   CHP2   CLN3   COG7   CORO1A   DCTN5   DCTPP1   DOC2A   EARS2   EIF3C   EIF3CL   ERN2   GDPD3   GGA2   GSG1L   GTF3C1   HIRIP3   HS3ST4   IL21R   IL21R-AS1   IL27   IL4R   INO80E   ITGAL   KCTD13   KDM8   KIAA0556   KIF22   LAT   LCMT1   LCMT1-AS1   LCMT1-AS2   LINC01567   LINC02129   LINC02175   LINC02191   LINC02195   LINC2194   MAPK3   MAZ   MIR1273H   MIR3680-2   MIR4517   MIR4518   MIR4721   MIR548W   MIR6862-1   MIR6862-2   MVP   MYLPF   NDUFAB1   NFATC2IP   NPIPB11   NPIPB12   NPIPB13   NPIPB6   NPIPB8   NPIPB9   NSMCE1   NSMCE1-DT   NUPR1   PAGR1   PALB2   PLK1   PPP4C   PRKCB   PRRT2   QPRT   RABEP2   RBBP6   SBK1   SCNN1B   SCNN1G   SEPHS2   SEPTIN1   SEZ6L2   SGF29   SH2B1   SLC5A11   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SNORA80C   SPN   SPNS1   SULT1A1   SULT1A2   SULT1A3   SULT1A4   TAOK2   TBC1D10B   TBX6   TLCD3B   TMEM219   TNRC6A   TUFM   UBFD1   USP31   XPO6   YPEL3   ZG16   ZKSCAN2   ZNF48   ZNF688   ZNF689   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_23047969)_(30632245_?)dup
NC_000016.9:g.(?_23059290)_(30643566_?)dup
NC_000016.8:g.(?_22966791)_(30551067_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,047,969 - 30,632,245CLINVAR
GRCh371623,059,290 - 30,643,566CLINVAR
Build 361622,966,791 - 30,551,067CLINVAR
Cytogenetic Map1616p12.2-11.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619389
Created: 2014-05-13
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.