RGD:15166727 Rat Genome Database

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Variant: RGD:15166727 -  Homo sapiens

RGD ID: 15166727
RS ID: rs147521584
ClinVar ID: CV728883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DONSON  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 34,950,699
GRCh38 21 33,578,393
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017613.4:c.1615G>A
NG_052981.1:g.40357C>T
NC_000021.9:g.33578393C>T
NC_000021.8:g.34950699C>T
More... 		05/24/2018 missense variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DONSON
Accession:NM_017613
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 539
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVPGYSPGFRKPPEVVRLRRKRARSRGAAASPPRELTEPAARRAALVAGLPLRPFPAAGGRGGGSGGGPAAARRNPF
ARLDNRPRVAAEPPDGPAREQPEAPVPFLDSNQENDLLWEEKFPERTTVTELPQTSHVSFSEPDIPSSKSTELPVDWSIK
TRLLFTSSQPFTWADHLKAQEEAQGLVQHCRATEVTLPKSIQDPKLSSELRCTFQQSLIYWLHPALSWLPLFPRIGADRK
MAGKTSPWSNDATLQHVLMSDWSVSFTSLYNLLKTKLCPYFYVCTYQFTVLFRAAGLAGSDLITALISPTTRGLREAMRN
EGIEFSLPLIKESGHKKETASGTSLGYGEEQAISDEDEEESFSWLEEMGVQDKIKKPDILSIKLRKEKHEVQMDHRPESV
VLVKGINTFTLLNFLINSKSLVATSGPQAGLPPTLLSPVAFRGATMQMLKARSVNVKTQALSGYRDQFSLEITGPIMPHS
LHSLTMLLKSSQSGSFSAVLYPHEPTAVFNICLQMDKVLDMEVVHKELTNCGLHPNTLKQLSQIPLLGKSSLRNVVLRDY
IYNWRS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000882693 CLINVAR
  RCV003940460 CLINVAR
dbSNP (RS) rs147521584 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DONSON CLINVAR
OMIM 611428 CLINVAR