NM_033116.6(NEK9):c.1327+1G>TRat Genome Database

Send us a Message



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

Variant : CV1017831 (NM_033116.6(NEK9):c.1327+1G>T) Homo sapiens

Symbol: CV1017831
Name: NM_033116.6(NEK9):c.1327+1G>T
RGD ID: 126728223
Condition: Arthrogryposis, perthes disease, and upward gaze palsy [RCV001332756]
Clinical Significance: likely pathogenic
Last Evaluated: 09/30/2019
Review Status: criteria provided, single submitter
Related Genes: NEK9  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_033116.6:c.1327+1G>T
NM_001329238.2:c.973+1G>T
NM_001329237.2:c.1327+1G>T
NG_051093.1:g.24739G>T
NC_000014.9:g.75107342C>A
NC_000014.8:g.75574045C>A
NM_033116.4:c.1327+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381475,107,342 - 75,107,342CLINVAR
GRCh371475,574,045 - 75,574,045CLINVAR
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 RCV001332756 CLINVAR
MedGen C3280309 CLINVAR
NCBI Gene NEK9 CLINVAR
OMIM 609798 CLINVAR
  614262 CLINVAR