RGD:8573687 Rat Genome Database

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Variant: RGD:8573687 -  Homo sapiens

RGD ID: 8573687
RS ID: rs17852079
ClinVar ID: CV94484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664557  PRNP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 4,680,545
GRCh38 20 4,699,899
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.18749C>T
NC_000020.11:g.4699899C>T
NC_000020.10:g.4680545C>T
NP_000302.1:p.Gln227Ter
More... 		01/29/2015 3 prime utr variant|nonsense|stop-gain 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: Q to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYY*RGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_183079
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYY*RGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080122
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYY*RGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_000311
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYY*RGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080121
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYY*RGSSMVLFSSPPV
ILLISFLIFLIVG*
Variant Samples
Additional References at PubMed
PMID:19911184  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000074472 CLINVAR
dbSNP (RS) rs17852079 CLINVAR
MedGen C0017495 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 137440 CLINVAR
  176640 CLINVAR
OMIM Allele 176640.0034 CLINVAR
SNOMED CT 67155006 CLINVAR