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Variant : CV164498 (GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1) Homo sapiens

Symbol: CV164498
Name: GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1
Condition: See cases [RCV000142811]
Clinical Significance: uncertain significance
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC019257.1   AC100797.4   AC100810.1   AC246817.1   AF067845.2   ARHGEF10   CLN8   CSMD1   DLGAP2   DLGAP2-AS1   ERICH1   FAM87A   FBXO25   KBTBD11   KBTBD11-OT1   LOC101927815   LOC105377777   LOC106783493   LOC107522030   LOC114827837   MIR3674   MIR596   MIR7160   MYOM2   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_226452)_(4316172_?)del
NC_000008.10:g.(?_176452)_(4173694_?)del
NC_000008.9:g.(?_166452)_(4161102_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388226,452 - 4,316,172CLINVAR
GRCh378176,452 - 4,173,694CLINVAR
Build 368166,452 - 4,161,102CLINVAR
Cytogenetic Map88p23.3-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490409
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.