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Variant : CV158422 (GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1) Homo sapiens

Symbol: CV158422
Name: GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1
Condition: See cases [RCV000137739]
Clinical Significance: uncertain significance
Last Evaluated: 10/07/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP3S1   ATG12   CDO1   FEM1C   TICAM2   TMED7   TMED7-TICAM2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_115387674)_(115916830_?)del
NC_000005.9:g.(?_114723371)_(115252527_?)del
NC_000005.8:g.(?_114751270)_(115280426_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385115,387,674 - 115,916,830CLINVAR
GRCh375114,723,371 - 115,252,527CLINVAR
Build 365114,751,270 - 115,280,426CLINVAR
Cytogenetic Map55q22.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485291
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.