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Variant : CV158032 (GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1) Homo sapiens

Symbol: CV158032
Name: GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1
Condition: See cases [RCV000137356]
Clinical Significance: likely pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: B3GNTL1   CCDC57   CD7   CSNK1D   CYBC1   FASN   FN3K   FN3KRP   FOXK2   HEXD   HEXD-IT1   LINC01970   METRNL   MIR4525   MIR6787   NARF   OGFOD3   RAB40B   SECTM1   SLC16A3   SNORD134   TBCD   TEX19   TRX-CAT1-8   UTS2R   WDR45B   ZNF750  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_82072338)_(83102552_?)del
NC_000017.10:g.(?_80030214)_(81048189_?)del
NC_000017.9:g.(?_77623503)_(78653717_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381782,072,338 - 83,102,552CLINVAR
GRCh371780,030,214 - 81,048,189CLINVAR
Build 361777,623,503 - 78,653,717CLINVAR
Cytogenetic Map1717q25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484913
Created: 2014-09-09
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.