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Variant : CV496722 (NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup) Homo sapiens

Symbol: CV496722
Name: NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup
Condition: not specified [RCV000614893]
Clinical Significance: uncertain significance
Last Evaluated: 03/15/2017
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_46742762)_(46752454_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38346,701,272 - 46,710,964CLINVAR
GRCh37346,742,762 - 46,752,454CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13540579
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-02-04
Status: ACTIVE


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