Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV71748 (GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1) Homo sapiens

Symbol: CV71748
Name: GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1
Condition: Hearing impairment [RCV000050801]|See cases [RCV000050801]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C8orf34   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.(?_68488015)_(71476177_?)del
NC_000008.10:g.(?_69400250)_(72388412_?)del
NC_000008.9:g.(?_69562804)_(72550966_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38868,488,015 - 71,476,177CLINVAR
GRCh37869,400,250 - 72,388,412CLINVAR
Build 36869,562,804 - 72,550,966CLINVAR
Cytogenetic Map88q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617876
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.