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Variant : CV158949 (GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1) Homo sapiens

Symbol: CV158949
Name: GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1
Condition: See cases [RCV000138251]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
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.(?_68987835)_(71663466_?)del
NC_000008.10:g.(?_69900070)_(72575701_?)del
NC_000008.9:g.(?_70062624)_(72738255_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38868,987,835 - 71,663,466CLINVAR
GRCh37869,900,070 - 72,575,701CLINVAR
Build 36870,062,624 - 72,738,255CLINVAR
Cytogenetic Map88q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485800
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.