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Variant : CV155176 (GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1) Homo sapiens

Symbol: CV155176
Name: GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1
Condition: See cases [RCV000134801]
Clinical Significance: pathogenic
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EYA1   LACTB2   LACTB2-AS1   LINC01592   LINC01603   NCOA2   PRDM14   SLCO5A1   SULF1   TRAM1   XKR9  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_68987881)_(71640028_?)del
NC_000008.10:g.(?_69900116)_(72552263_?)del
NC_000008.9:g.(?_70062670)_(72714817_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38868,987,881 - 71,640,028CLINVAR
GRCh37869,900,116 - 72,552,263CLINVAR
Build 36870,062,670 - 72,714,817CLINVAR
Cytogenetic Map88q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482378
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.