RGD:8563685 Rat Genome Database

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Variant: RGD:8563685 -  Homo sapiens

RGD ID: 8563685
RS ID: rs74315415
ClinVar ID: CV28453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664557  PRNP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 4,680,264
GRCh38 20 4,699,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009087.1:g.18468C>T
NC_000020.11:g.4699618C>T
NC_000020.10:g.4680264C>T
NP_000302.1:p.Ala133Val
More... 		12/18/2013 3 prime utr variant|missense|missense variant pathogenic adulthood Amyloidosis cerebral with spongiform encephalopathy; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS; Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; Encephalopathy subacute spongiform Gerstmann-Straussler type; GERSTMANN-STRAUSSLER DISEASE; PRION DEMENTIA; Spinocerebellar ataxia and plaque-like deposits; Spongiform encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRNP
Accession:NM_001271561
Location:3UTRS;EXON

Gene Symbol:PRNP
Accession:NM_001080123
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSVMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_183079
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSVMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080122
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSVMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_000311
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSVMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080121
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSVMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*
Variant Samples
Additional References at PubMed
PMID:17353478  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014356 CLINVAR
dbSNP (RS) rs74315415 CLINVAR
MedGen C0017495 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 137440 CLINVAR
  176640 CLINVAR
OMIM Allele 176640.0026 CLINVAR
SNOMED CT 67155006 CLINVAR