Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV161892 (GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4) Homo sapiens

Symbol: CV161892
Name: GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4
Condition: See cases [RCV000140776]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADA2   ATP6V1E1   BCL2L13   BID   CCT8L2   CECR2   CECR3   CECR7   FAM230D   GAB4   HDHD5   HDHD5-AS1   IL17RA   LINC00528   LINC01634   LINC01664   LINC01665   MICAL3   MIR3198-1   MIR648   PEX26   SLC25A18   TMEM121B   TUBA8   USP18   XKR3  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_16367190)_(18178957_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382216,367,190 - 18,178,957CLINVAR
GRCh372216,054,691 - 18,661,724CLINVAR
Build 362214,434,691 - 17,041,724CLINVAR
Cytogenetic Map2222p11.2-q11.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489977
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.