Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV350417 (NM_001015878.2(AURKC):c.-80dup) Homo sapiens

Symbol: CV350417
Name: NM_001015878.2(AURKC):c.-80dup
Condition: Spermatogenic Failure [RCV000393889]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: AURKC  
Variant Type: duplication (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_012134.1:g.5161dup
NM_003160.3:c.-45+50dup
NC_000019.10:g.57231169dup
NC_000019.9:g.57742537dup
NM_001015878.1:c.-80dupC
NM_001015878.2:c.-80dup
NM_001015879.2:c.1+55dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381957,231,163 - 57,231,164CLINVAR
GRCh371957,742,531 - 57,742,532CLINVAR
Cytogenetic Map1919q13.43CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11663252
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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