NM_033116.6(NEK9):c.2042G>A (p.Arg681His)Rat Genome Database

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Variant : CV244032 (NM_033116.6(NEK9):c.2042G>A (p.Arg681His)) Homo sapiens

Symbol: CV244032
Name: NM_033116.6(NEK9):c.2042G>A (p.Arg681His)
RGD ID: 11522809
Condition: Arthrogryposis, perthes disease, and upward gaze palsy [RCV000234928]
Clinical Significance: pathogenic
Last Evaluated: 07/07/2016
Review Status: no assertion criteria provided
Related Genes: NEK9  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001329238.2:c.1688G>A
NM_033116.6:c.2042G>A
NP_001316167.1:p.Arg563His
NC_000014.9:g.75097231C>T
NC_000014.8:g.75563934C>T
NP_149107.4:p.Arg681His
NG_051093.1:g.34850G>A
NM_033116.4:c.2042G>A
NM_001329237.2:c.2078G>A
NP_001316166.1:p.Arg693His
Position
Human AssemblyChrPosition (strand)Source
GRCh381475,097,231 - 75,097,231CLINVAR
GRCh371475,563,934 - 75,563,934CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:26633546  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000234928 CLINVAR
dbSNP (RS) rs142859694 CLINVAR
MedGen C3280309 CLINVAR
NCBI Gene NEK9 CLINVAR
OMIM 609798 CLINVAR
  614262 CLINVAR
OMIM Allele 609798.0002 CLINVAR