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Variant : CV158352 (GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3) Homo sapiens

Symbol: CV158352
Name: GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3
Condition: See cases [RCV000137672]
Clinical Significance: pathogenic
Last Evaluated: 08/29/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASPH   BHLHE22   BPNT2   CA8   CERNA3   CHCHD7   CHD7   CLVS1   CYP7A1   CYP7B1   FAM110B   GGH   LINC00588   LINC00968   LINC01289   LINC01301   LINC01414   LINC01602   LINC01606   LINC02155   LINC02842   LYN   MIR124-2   MIR124-2HG   MIR4470   MOS   NKAIN3   NKAIN3-IT1   NSMAF   PENK   PLAG1   RAB2A   RPS20   SDCBP   SDR16C5   SNORA1B   SNORD54   TGS1   TMEM68   TOX   TTPA   UBXN2B   XKR4   YTHDF3   YTHDF3-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_55315854)_(64952752_?)dup
NC_000008.10:g.(?_56228414)_(65864987_?)dup
NC_000008.9:g.(?_56390968)_(66027541_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38855,315,854 - 64,952,752CLINVAR
GRCh37856,228,414 - 65,864,987CLINVAR
Build 36856,390,968 - 66,027,541CLINVAR
Cytogenetic Map88q12.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485225
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.