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Variant : CV164840 (GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1) Homo sapiens

Symbol: CV164840
Name: GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1
Condition: See cases [RCV000143153]
Clinical Significance: uncertain significance
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BASP1   BASP1-AS1   H3Y1   H3Y2   LINC02111   LINC02217   LINC02218   LINC02223   MIR10522   MYO10   RETREG1   ZNF622  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_16456444)_(18561765_?)del
NC_000005.9:g.(?_16456553)_(18561874_?)del
NC_000005.8:g.(?_16509553)_(18597631_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38516,456,444 - 18,561,765CLINVAR
GRCh37516,456,553 - 18,561,874CLINVAR
Build 36516,509,553 - 18,597,631CLINVAR
Cytogenetic Map55p15.1-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490751
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-12
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.