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Variant : CV334414 (NM_001015878.2(AURKC):c.-99dup) Homo sapiens

Symbol: CV334414
Name: NM_001015878.2(AURKC):c.-99dup
Condition: Spermatogenic Failure [RCV000311416]
Clinical Significance: conflicting interpretations of pathogenicity
Last Evaluated: 06/14/2016
Review Status: criteria provided, conflicting interpretations
Related Genes: AURKC  
Variant Type: duplication (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|intron variant
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.57231150dup
NC_000019.9:g.57742518dup
NM_001015878.1:c.-99dupC
NG_012134.1:g.5142dup
NM_001015879.2:c.1+36dup
NM_003160.3:c.-45+31dup
NM_001015878.2:c.-99dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381957,231,146 - 57,231,147CLINVAR
GRCh371957,742,514 - 57,742,515CLINVAR
Cytogenetic Map1919q13.43CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11618188
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-08-04
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.