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Variant : CV248090 (GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1) Homo sapiens

Symbol: CV248090
Name: GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1
Condition: See cases [RCV000240421]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: EYA1   LACTB2   NCOA2   PRDM14   SLCO5A1   SULF1   TRAM1   XKR9  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37869,955,127 - 72,552,241CLINVAR
Cytogenetic Map88q13.2-13.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541819
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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