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Variant : CV165141 (GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)) Homo sapiens

Symbol: CV165141
Name: GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)
Condition: See cases [RCV000143454]
Clinical Significance: likely pathogenic
Last Evaluated: 06/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   AC004980.1   AC211433.1   APTR   BAZ1B   BCL7B   BUD23   CALN1   CASTOR2   CCDC146   CCL24   CCL26   CLDN3   CLDN4   CLIP2   DNAJC30   DTX2   EIF4H   ELN   FGL2   FKBP6   FZD9   GSAP   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   HIP1   HSPB1   LAT2   LIMK1   MAGI2   MAGI2-AS2   MDH2   METTL27   MIR10525   MIR4284   MIR4650-2   MIR4651   MIR590   MLXIPL   NCF1   NSUN5   PHTF2   POM121   POM121C   POMZP3   POR   PTPN12   RCC1L   RFC2   RHBDD2   RSBN1L   SNORA14A   SPDYE10P   SPDYE11   SPDYE12P   SPDYE13   SPDYE14   SPDYE15   SPDYE16   SPDYE17   SPDYE18   SPDYE5   SPDYE7P   SPDYE8   SPDYE9   SRRM3   SSC4D   STX1A   STYXL1   TBL2   TMEM120A   TMEM270   TMEM60   TRIM50   TRIM73   TRIM74   TYW1B   UPK3B   VPS37D   YWHAG   ZP3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_72179092)_(79164071_?)dup
NC_000007.13:g.(?_71644077)_(78793387_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38772,179,092 - 79,164,071CLINVAR
GRCh37771,644,077 - 78,793,387CLINVAR
Build 36771,282,013 - 78,631,323CLINVAR
Cytogenetic Map77q11.22-21.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491052
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.