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Variant : CV155212 (GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3) Homo sapiens

Symbol: CV155212
Name: GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3
Condition: See cases [RCV000134830]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADHFE1   ARMC1   ASPH   BHLHE22   CHD7   CLVS1   CRH   CYP7B1   DNAJC5B   GGH   LINC00251   LINC00967   LINC01289   LINC01299   LINC01414   LINC02155   LINC02842   MIR124-2   MIR124-2HG   MIR4470   MTFR1   MYBL1   NKAIN3   PDE7A   RAB2A   RRS1   RRS1-AS1   TRA-AGC8-2   TRIM55   TRY-GTA5-1   TRY-GTA5-2   TTPA   VCPIP1   VXN   YTHDF3   YTHDF3-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_60519222)_(66659025_?)dup
NC_000008.10:g.(?_61431781)_(67571260_?)dup
NC_000008.9:g.(?_61594335)_(67733814_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38860,519,222 - 66,659,025CLINVAR
GRCh37861,431,781 - 67,571,260CLINVAR
Build 36861,594,335 - 67,733,814CLINVAR
Cytogenetic Map88q12.1-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482407
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.