RGD:15150289 Rat Genome Database

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Variant: RGD:15150289 -  Homo sapiens

RGD ID: 15150289
RS ID: rs370426100
ClinVar ID: CV705521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664557  PRNP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 4,680,172
GRCh38 20 4,699,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271561.3:c.217G>A
NM_000311.5:c.306G>A
NM_001080121.3:c.306G>A
NM_001080122.3:c.306G>A
More... 		03/13/2020 missense variant benign|likely benign 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; Creutzfeldt-Jakob Disease, Familial; Encephalopathy subacute spongiform Gerstmann-Straussler type; Fatal familial insomnia; GERSTMANN-STRAUSSLER DISEASE; Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT; Kuru, susceptibility to; none provided; PRION DEMENTIA; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES; Spinocerebellar ataxia and plaque-like deposits; Spongiform encephalopathy; Spongiform encephalopathy with neuropsychiatric features

Variant Details
Variant Transcripts
Gene Symbol:PRNP
Accession:NM_001080122
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080123
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_183079
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001271561
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLGSRRWHPQSVEQAK*

Gene Symbol:PRNP
Accession:NM_000311
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080121
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000945465 CLINVAR
  RCV001811543 CLINVAR
  RCV002489280 CLINVAR
dbSNP (RS) rs370426100 CLINVAR
MedGen C0751254 CLINVAR
  C1864112 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 123400 CLINVAR
  137440 CLINVAR
  176640 CLINVAR
  245300 CLINVAR
  600072 CLINVAR
  603218 CLINVAR
  606688 CLINVAR
SNOMED CT 67155006 CLINVAR