RGD:8639037 Rat Genome Database

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Variant: RGD:8639037 -  Homo sapiens

RGD ID: 8639037
RS ID: rs398122413
ClinVar ID: CV94479
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664557  PRNP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 4,680,499
GRCh38 20 4,699,853
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.18703G>C
NC_000020.11:g.4699853G>C
NC_000020.10:g.4680499G>C
NP_000302.1:p.Glu211Asp
More... 		10/05/2021 3 prime utr variant|missense|missense variant pathogenic|uncertain significance 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; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT; PRION DEMENTIA; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES; 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: E to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVDQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080122
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVDQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_183079
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVDQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_000311
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVDQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080121
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVDQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*
Variant Samples
Additional References at PubMed
PMID:10790216   PMID:11568919   PMID:12590162   PMID:22965875   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000074467 CLINVAR
  RCV001854271 CLINVAR
dbSNP (RS) rs398122413 CLINVAR
MedGen C0017495 CLINVAR
  C1864112 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 137440 CLINVAR
  176640 CLINVAR
  603218 CLINVAR
OMIM Allele 176640.0029 CLINVAR
SNOMED CT 67155006 CLINVAR