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Variant : CV156040 (GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3) Homo sapiens

Symbol: CV156040
Name: GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3
Condition: See cases [RCV000135594]
Clinical Significance: likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APOBR   AQP8   ARHGAP17   ATP2A1   ATP2A1-AS1   ATXN2L   C16orf82   CACNG3   CD19   CHP2   CLN3   COG7   DCTN5   EARS2   EIF3C   EIF3CL   ERN2   GGA2   GSG1L   GTF3C1   HS3ST2   HS3ST4   IL21R   IL21R-AS1   IL27   IL4R   KDM8   KIAA0556   LAT   LCMT1   LCMT1-AS1   LCMT1-AS2   LINC01567   LINC02129   LINC02175   LINC02191   LINC02194   LINC02195   MIR1273H   MIR4517   MIR4721   MIR548W   MIR6862-1   MIR6862-2   NDUFAB1   NFATC2IP   NPIPB6   NPIPB8   NPIPB9   NSMCE1   NSMCE1-DT   NUPR1   PALB2   PLK1   PRKCB   RABEP2   RBBP6   SBK1   SCNN1B   SCNN1G   SGF29   SH2B1   SLC5A11   SPNS1   SULT1A1   SULT1A2   TNRC6A   TUFM   UBFD1   USP31   XPO6   ZKSCAN2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_22634385)_(29227323_?)dup
NC_000016.9:g.(?_22645706)_(29238644_?)dup
NC_000016.8:g.(?_22553207)_(29146145_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381622,634,385 - 29,227,323CLINVAR
GRCh371622,645,706 - 29,238,644CLINVAR
Build 361622,553,207 - 29,146,145CLINVAR
Cytogenetic Map1616p12.2-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483166
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.