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Variant : CV74206 (GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1) Homo sapiens

Symbol: CV74206
Name: GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454]
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   CCDC137   CCDC57   CD7   CENPX   CEP131   CHMP6   CSNK1D   CYBC1   DCXR   DUS1L   ENDOV   FAAP100   FASN   FN3K   FN3KRP   FOXK2   FSCN2   GCGR   GPS1   HEXD   HEXD-IT1   HGS   LINC00482   LINC01970   LINC01971   LOC400627   LRRC45   MAFG   MAFG-DT   MCRIP1   METRNL   MIR1250   MIR3065   MIR3186   MIR338   MIR4525   MIR4730   MIR4740   MIR657   MIR6786   MIR6787   MRPL12   MYADML2   NARF   NDUFAF8   NOTUM   NPB   NPLOC4   NPTX1   OGFOD3   OXLD1   P4HB   PCYT2   PDE6G   PPP1R27   PVALEF   PYCR1   RAB40B   RAC3   RFNG   RNF213   RPTOR   SECTM1   SIRT7   SLC16A3   SLC25A10   SLC38A10   SNORD134   TBCD   TEPSIN   TEX19   TMEM105   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.(?_80328106)_(83086677_?)del
NC_000017.10:g.(?_78301906)_(81044553_?)del
NC_000017.9:g.(?_75916501)_(78637842_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381780,328,106 - 83,086,677CLINVAR
GRCh371778,301,906 - 81,044,553CLINVAR
Build 361775,916,501 - 78,637,842CLINVAR
Cytogenetic Map1717q25.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620391
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.