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Variant : CV759174 (NM_001330700.1(TOP2B):c.396-5_396-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT) Homo sapiens

Symbol: CV759174
Name: NM_001330700.1(TOP2B):c.396-5_396-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT
Condition: not provided [RCV000914433]
Clinical Significance: benign
Last Evaluated: 03/29/2018
Review Status: criteria provided, single submitter
Related Genes: TOP2B  
Variant Type: insertion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001330700.1:c.396-5_396-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001068.3:c.381-5_381-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT
NM_001330700.1:c.396-5_396-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT
NG_052961.1:g.31058_31059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NC_000003.12:g.25638314_25638315insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NC_000003.12:g.25638352_25638353insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NC_000003.11:g.25679843_25679844insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Position
Human AssemblyChrPosition (strand)Source
GRCh38325,638,314 - 25,638,315CLINVAR
GRCh37325,679,805 - 25,679,806CLINVAR
Cytogenetic Map33p24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15099311
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-19
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.