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Variant : CV155181 (GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1) Homo sapiens

Symbol: CV155181
Name: GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1
Condition: See cases [RCV000134806]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFG1L   AK9   AMD1   ARMC2   ARMC2-AS1   ATG5   BEND3   BVES   BVES-AS1   CD164   CD24   CDC40   CDK19   CEP57L1   CRYBG1   DDO   FIG4   FOXO3   GPR6   GTF3C6   HACE1   LIN28B   LIN28B-AS1   LINC00222   LINC02526   LINC02532   LINC02836   METTL24   MICAL1   MIR587   MTRES1   NR2E1   OSTM1   OSTM1-AS1   PDSS2   POPDC3   PPIL6   PRDM1   PREP   QRSL1   RPF2   RTN4IP1   SCML4   SEC63   SESN1   SLC22A16   SMPD2   SNORA40C   SNX3   SOBP   WASF1   ZBTB24  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_102356502)_(111049879_?)del
NC_000006.11:g.(?_102804377)_(111371082_?)del
NC_000006.10:g.(?_102911070)_(111477775_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386102,356,502 - 111,049,879CLINVAR
GRCh376102,804,377 - 111,371,082CLINVAR
Build 366102,911,070 - 111,477,775CLINVAR
Cytogenetic Map66q16.3-21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482383
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.