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Variant : CV164064 (GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1) Homo sapiens

Symbol: CV164064
Name: GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1
Condition: See cases [RCV000142381]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC004980.1   AC008163.1   AC211433.1   APTR   CACNA2D1   CACNA2D1-AS1   CASTOR2   CCDC146   CCL24   CCL26   CD36   CLIP2   DTX2   FGL2   GNAI1   GNAT3   GSAP   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   HGF   HIP1   HSPB1   MAGI2   MAGI2-AS2   MAGI2-AS3   MDH2   MIR10525   MIR4651   NCF1   PHTF2   POM121C   POMZP3   POR   PTPN12   RCC1L   RHBDD2   RSBN1L   SEMA3C   SNORA14A   SPDYE12P   SPDYE13   SPDYE14   SPDYE15   SPDYE16   SPDYE17   SPDYE18   SPDYE5   SRRM3   SSC4D   STYXL1   TMEM120A   TMEM60   TRIM73   UPK3B   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_74377395)_(82031742_?)del
NC_000007.13:g.(?_73992744)_(81661058_?)del
NC_000007.12:g.(?_73429661)_(81498994_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38774,377,395 - 82,031,742CLINVAR
GRCh37773,992,744 - 81,661,058 (+)CLINVAR
Build 36773,429,661 - 81,498,994CLINVAR
Cytogenetic Map77q11.23-21.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489900
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.