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Variant : CV163471 (GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1) Homo sapiens

Symbol: CV163471
Name: GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1
Condition: See cases [RCV000142007]
Clinical Significance: likely pathogenic
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTG1   ALYREF   ANAPC11   ARHGDIA   ARL16   ASPSCR1   B3GNTL1   BAHCC1   CCDC137   CCDC57   CD7   CENPX   CSNK1D   CYBC1   DCXR   DCXR-DT   DUS1L   FAAP100   FASN   FN3K   FN3KRP   FOXK2   FSCN2   GCGR   GPS1   HEXD   HEXD-IT1   HGS   LINC01970   LINC01971   LRRC45   MAFG   MAFG-DT   MCRIP1   METRNL   MIR3186   MIR4525   MIR6786   MIR6787   MRPL12   MYADML2   NARF   NOTUM   NPB   NPLOC4   OGFOD3   OXLD1   P4HB   PCYT2   PDE6G   PPP1R27   PYCR1   RAB40B   RAC3   RFNG   SECTM1   SIRT7   SLC16A3   SLC25A10   SNORD134   TBCD   TEX19   TRX-CAT1-8   TSPAN10   UTS2R   WDR45B   ZNF750  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_81401966)_(83084062_?)del
NC_000017.10:g.(?_79375766)_(81041938_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381781,401,966 - 83,084,062CLINVAR
GRCh371779,375,766 - 81,041,938CLINVAR
Build 361776,990,361 - 78,635,227CLINVAR
Cytogenetic Map1717q25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489527
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.