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Variant : CV72681 (GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3) Homo sapiens

Symbol: CV72681
Name: GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|See cases [RCV000051829]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOBR   AQP8   ARHGAP17   ATP2A1   ATP2A1-AS1   ATXN2L   C16orf82   CACNG3   CD19   CDR2   CHP2   CLN3   COG7   DCTN5   EARS2   EEF2K   EIF3C   EIF3CL   ERN2   GGA2   GSG1L   GTF3C1   HS3ST2   HS3ST4   IGSF6   IL21R   IL21R-AS1   IL27   IL4R   KDM8   KIAA0556   LAT   LCMT1   LCMT1-AS1   LCMT1-AS2   LINC01567   LINC02129   LINC02175   LINC02191   LINC02195   LINC2194   METTL9   MIR1273H   MIR3680-1   MIR4517   MIR4721   MIR548W   MIR6862-1   MIR6862-2   MOSMO   NDUFAB1   NFATC2IP   NPIPB4   NPIPB5   NPIPB6   NPIPB8   NPIPB9   NSMCE1   NSMCE1-DT   NUPR1   OTOA   PALB2   PDZD9   PLK1   POLR3E   PRKCB   RABEP2   RBBP6   SBK1   SCNN1B   SCNN1G   SDR42E2   SGF29   SH2B1   SLC5A11   SPNS1   SULT1A1   SULT1A2   TNRC6A   TRL-AAG2-4   TRL-TAG3-1   TUFM   UBFD1   UQCRC2   USP31   VWA3A   XPO6   ZKSCAN2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_21463739)_(29249579_?)dup
NC_000016.9:g.(?_21475060)_(29260900_?)dup
NC_000016.8:g.(?_21382561)_(29168401_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381621,463,739 - 29,249,579CLINVAR
GRCh371621,475,060 - 29,260,900CLINVAR
Build 361621,382,561 - 29,168,401CLINVAR
Cytogenetic Map1616p12.2-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618842
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.