RGD:15177948 Rat Genome Database

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Variant: RGD:15177948 -  Homo sapiens

RGD ID: 15177948
RS ID: rs141237312
ClinVar ID: CV705665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DONSON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 34,950,728
GRCh38 21 33,578,422
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.1586C>T
NG_052981.1:g.40386G>A
NC_000021.9:g.33578422G>A
NC_000021.8:g.34950728G>A
More... 		08/01/2023 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: T to I (nonsynonymous)
Amino Acid Position: 529
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVPGYSPGFRKPPEVVRLRRKRARSRGAAASPPRELTEPAARRAALVAGLPLRPFPAAGGRGGGSGGGPAAARRNPF
ARLDNRPRVAAEPPDGPAREQPEAPVPFLDSNQENDLLWEEKFPERTTVTELPQTSHVSFSEPDIPSSKSTELPVDWSIK
TRLLFTSSQPFTWADHLKAQEEAQGLVQHCRATEVTLPKSIQDPKLSSELRCTFQQSLIYWLHPALSWLPLFPRIGADRK
MAGKTSPWSNDATLQHVLMSDWSVSFTSLYNLLKTKLCPYFYVCTYQFTVLFRAAGLAGSDLITALISPTTRGLREAMRN
EGIEFSLPLIKESGHKKETASGTSLGYGEEQAISDEDEEESFSWLEEMGVQDKIKKPDILSIKLRKEKHEVQMDHRPESV
VLVKGINTFTLLNFLINSKSLVATSGPQAGLPPTLLSPVAFRGATMQMLKARSVNVKTQALSGYRDQFSLEITGPIMPHS
LHSLTMLLKSSQSGSFSAVLYPHEPTAVFNICLQMDKVLDMEVVHKELINCGLHPNTLEQLSQIPLLGKSSLRNVVLRDY
IYNWRS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000951159 CLINVAR
  RCV003925937 CLINVAR
dbSNP (RS) rs141237312 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DONSON CLINVAR
OMIM 611428 CLINVAR