RGD:8555618 Rat Genome Database

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Variant: RGD:8555618 -  Homo sapiens

RGD ID: 8555618
RS ID: rs121918137
ClinVar ID: CV15451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASET2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 167,344,549
GRCh38 6 166,931,061
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.166931061A>G
NC_000006.11:g.167344549A>G
NP_003721.2:p.Cys184Arg
O00584:p.Cys184Arg
More... 		08/08/2012 missense|missense variant pathogenic neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASET2
Accession:NM_003730
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWP
FNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSI
NYYQVADFKDALARVYGVIPKIQRLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
CEDGPVFYPPPKKTKH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000000440 CLINVAR
dbSNP (RS) rs121918137 CLINVAR
MedGen C2751843 CLINVAR
NCBI Gene RNASET2 CLINVAR
OMIM 612944 CLINVAR
  612951 CLINVAR
OMIM Allele 612944.0001 CLINVAR