NM_033116.6(NEK9):c.762+10C>TRat Genome Database

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Variant : CV1021242 (NM_033116.6(NEK9):c.762+10C>T) Homo sapiens

Symbol: CV1021242
Name: NM_033116.6(NEK9):c.762+10C>T
RGD ID: 126730374
Condition: Arthrogryposis, perthes disease, and upward gaze palsy [RCV001333414]
Clinical Significance: uncertain significance
Last Evaluated: 03/02/2018
Review Status: criteria provided, single submitter
Related Genes: NEK9  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001329238.2:c.408+10C>T
NM_001329237.2:c.762+10C>T
NM_033116.6:c.762+10C>T
NG_051093.1:g.14896C>T
NC_000014.9:g.75117185G>A
NC_000014.8:g.75583888G>A
NM_033116.4:c.762+10C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381475,117,185 - 75,117,185CLINVAR
GRCh371475,583,888 - 75,583,888CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001333414 CLINVAR
MedGen C3280309 CLINVAR
NCBI Gene NEK9 CLINVAR
OMIM 609798 CLINVAR
  614262 CLINVAR