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Variant : CV73309 (GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3) Homo sapiens

Symbol: CV73309
Name: GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052497]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052497]|See cases [RCV000052497]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AATK   ACTG1   ALYREF   ANAPC11   ARHGDIA   ARL16   ASPSCR1   B3GNTL1   BAHCC1   BAIAP2   BAIAP2-DT   C1QTNF1   C1QTNF1-AS1   CANT1   CARD14   CBX2   CBX4   CBX8   CCDC137   CCDC40   CCDC57   CD7   CENPX   CEP131   CHMP6   CSNK1D   CYBC1   DCXR   DCXR-DT   DUS1L   EIF4A3   ENDOV   ENGASE   ENPP7   FAAP100   FASN   FN3K   FN3KRP   FOXK2   FSCN2   GAA   GCGR   GPS1   HEXD   HEXD-IT1   HGS   LGALS3BP   LINC00482   LINC01970   LINC01971   LINC01977   LINC01978   LINC01979   LINC02078   LOC400627   LRRC45   MAFG   MAFG-DT   MCRIP1   MIR1250   MIR1268B   MIR3065   MIR3186   MIR338   MIR4525   MIR4730   MIR4739   MIR4740   MIR657   MIR6786   MIR6787   MRPL12   MYADML2   NARF   NDUFAF8   NOTUM   NPB   NPLOC4   NPTX1   OGFOD3   OXLD1   P4HB   PCYT2   PDE6G   PPP1R27   PVALEF   PYCR1   RAB40B   RAC3   RBFOX3   RFNG   RNF213   RNF213-AS1   RPTOR   SECTM1   SGSH   SIRT7   SLC16A3   SLC25A10   SLC26A11   SLC38A10   SNORD134   TBC1D16   TBCD   TEPSIN   TEX19   TIMP2   TMEM105   TRX-CAT1-8   TSPAN10   UTS2R   WDR45B   ZNF750  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_78918650)_(83021095_?)dup
NC_000017.10:g.(?_76914732)_(80978971_?)dup
NC_000017.9:g.(?_74426327)_(78572260_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381778,918,650 - 83,021,095CLINVAR
GRCh371776,914,732 - 80,978,971CLINVAR
Build 361774,426,327 - 78,572,260CLINVAR
Cytogenetic Map1717q25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619477
Created: 2014-05-13
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.