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Variant : CV156229 (GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1) Homo sapiens

Symbol: CV156229
Name: GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1
Condition: See cases [RCV000135764]
Clinical Significance: likely pathogenic
Last Evaluated: 05/06/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CERNA3   LYN   LYPLA1   MOS   MRPL15   PLAG1   RNU105C   RP1   RPS20   SNORD54   SOX17   TCEA1   TGS1   TMEM68   XKR4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_53996579)_(56163431_?)del
NC_000008.10:g.(?_54909139)_(57075990_?)del
NC_000008.9:g.(?_55071692)_(57238544_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38853,996,579 - 56,163,431CLINVAR
GRCh37854,909,139 - 57,075,990CLINVAR
Build 36855,071,692 - 57,238,544CLINVAR
Cytogenetic Map88q11.23-12.1CLINVAR




Additional Information

 
RGD Object Information
RGD ID: 9483330
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2017-10-31
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.