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Variant : CV161709 (GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1) Homo sapiens

Symbol: CV161709
Name: GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1
Condition: See cases [RCV000140643]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BPNT2   CA8   CERNA3   CHCHD7   CHD7   CLVS1   CYP7A1   FAM110B   LINC00588   LINC00968   LINC01301   LINC01602   LINC01606   LYN   MOS   NSMAF   PENK   PLAG1   RAB2A   RP1   RPS20   SDCBP   SDR16C5   SNORA1B   SNORD54   TGS1   TMEM68   TOX   UBXN2B   XKR4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_54821357)_(61146302_?)del
NC_000008.10:g.(?_55733917)_(62058861_?)del
NC_000008.9:g.(?_55896471)_(62221415_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38854,821,357 - 61,146,302CLINVAR
GRCh37855,733,917 - 62,058,861CLINVAR
Build 36855,896,471 - 62,221,415CLINVAR
Cytogenetic Map88q12.1-12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488173
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.