RGD:11594717 Rat Genome Database

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Variant: RGD:11594717 -  Homo sapiens

RGD ID: 11594717
RS ID: rs202105909
ClinVar ID: CV299597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 167,343,195
GRCh38 6 166,929,707
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000006.12:g.166929707C>T
NC_000006.11:g.167343195C>T
NP_003721.2:p.Glu218Lys
NG_016280.2:g.31883G>A
More... 		10/04/2023 missense variant likely benign|uncertain significance infancy <1 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGKQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000362169 CLINVAR
  RCV003574759 CLINVAR
dbSNP (RS) rs202105909 CLINVAR
MedGen C2751843 CLINVAR
  C3661900 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR
  612951 CLINVAR