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Variant : CV383304 (GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1) Homo sapiens

Symbol: CV383304
Name: GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1
Condition: See cases [RCV000449416]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AATK   ACTG1   ALYREF   ANAPC11   ARHGDIA   ARL16   ASPSCR1   B3GNTL1   BAHCC1   BAIAP2   CCDC137   CCDC57   CD7   CENPX   CEP131   CHMP6   CSNK1D   CYBC1   DCXR   DUS1L   FAAP100   FASN   FN3K   FN3KRP   FOXK2   FSCN2   GCGR   GPS1   HEXD   HEXD-IT1   HGS   LRRC45   MAFG   MCRIP1   METRNL   MIR338   MRPL12   MYADML2   NARF   NDUFAF8   NOTUM   NPB   NPLOC4   OGFOD3   OXLD1   P4HB   PCYT2   PDE6G   PPP1R27   PYCR1   RAB40B   RAC3   RFNG   RPTOR   SECTM1   SIRT7   SLC16A3   SLC25A10   SLC38A10   TBCD   TEPSIN   TEX19   TMEM105   TSPAN10   UTS2R   WDR45B   ZNF750  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371778,514,452 - 81,041,938CLINVAR
Cytogenetic Map1717q25.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12854111
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.