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Variant : CV155061 (GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1) Homo sapiens

Symbol: CV155061
Name: GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1
Condition: See cases [RCV000134709]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATP6V0D1   B3GNT9   BEAN1   BEAN1-AS1   C16orf70   CA7   CBFB   CDH16   CDH5   CES2   CES3   CES4A   CIAO2B   CKLF   CKLF-CMTM1   CMTM1   CMTM2   CMTM3   CMTM4   DYNC1LI2   E2F4   ELMO3   EXOC3L1   FBXL8   FHOD1   HSD11B2   HSF4   KCTD19   KIAA0895L   LINC00920   LRRC29   LRRC36   MIR328   NAE1   NOL3   PDP2   PLEKHG4   RRAD   SLC9A5   TERB1   TK2   TMEM208   TPPP3   TRADD   ZDHHC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_66245888)_(67473023_?)del
NC_000016.9:g.(?_66279791)_(67506926_?)del
NC_000016.8:g.(?_64837292)_(66064427_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381666,245,888 - 67,473,023CLINVAR
GRCh371666,279,791 - 67,506,926CLINVAR
Build 361664,837,292 - 66,064,427CLINVAR
Cytogenetic Map1616q21-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482289
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.