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Variant : CV165341 (GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1) Homo sapiens

Symbol: CV165341
Name: GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1
Condition: See cases [RCV000143654]
Clinical Significance: likely pathogenic
Last Evaluated: 10/22/2013
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   LOC113788286   LOC114827837   MIR3674   MIR596   MIR7160   MYOM2   TDRP   ZNF596  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_208048)_(5615542_?)del
Human AssemblyChrPosition (strand)Source
GRCh388208,048 - 5,615,542CLINVAR
GRCh378158,048 - 5,473,064CLINVAR
Build 368148,048 - 5,460,472CLINVAR
Cytogenetic Map88p23.3-23.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491252
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.