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Variant : CV74924 (GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1) Homo sapiens

Symbol: CV74924
Name: GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1
Condition: See cases [RCV000054205]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, 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   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.(?_219853)_(3814398_?)del
NC_000008.10:g.(?_169853)_(3671920_?)del
NC_000008.9:g.(?_159853)_(3659328_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388219,853 - 3,814,398CLINVAR
GRCh378169,853 - 3,671,920CLINVAR
Build 368159,853 - 3,659,328CLINVAR
Cytogenetic Map88p23.3-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621116
Created: 2014-05-13
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.