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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: 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   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
 
CRRD Object Information
CRRD ID: 9489900
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.