NM_033116.6(NEK9):c.2232T>C (p.Thr744=)Rat Genome Database

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Variant : CV725819 (NM_033116.6(NEK9):c.2232T>C (p.Thr744=)) Homo sapiens

Symbol: CV725819
Name: NM_033116.6(NEK9):c.2232T>C (p.Thr744=)
RGD ID: 15173574
Condition: Arthrogryposis, perthes disease, and upward gaze palsy [RCV001336840]|not provided [RCV000884036]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 11/30/2018
Review Status: criteria provided, single submitter
Related Genes: NEK9  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001329238.2:c.1878T>C
NM_033116.6:c.2232T>C
NM_001329237.2:c.2268T>C
NG_051093.1:g.36708T>C
NC_000014.9:g.75095373A>G
NC_000014.8:g.75562076A>G
NM_001329237.1:c.2268T>C
NP_001316167.1:p.Thr626=
NP_149107.4:p.Thr744=
NP_001316166.1:p.Thr756=
NM_033116.4:c.2232T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381475,095,373 - 75,095,373CLINVAR
GRCh371475,562,076 - 75,562,076CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000884036 CLINVAR
  RCV001336840 CLINVAR
dbSNP (RS) rs61746426 CLINVAR
MedGen C3280309 CLINVAR
  CN517202 CLINVAR
NCBI Gene NEK9 CLINVAR
OMIM 609798 CLINVAR
  614262 CLINVAR