RGD:8563679 Rat Genome Database

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Variant: RGD:8563679 -  Homo sapiens

RGD ID: 8563679
RS ID: rs16990018
ClinVar ID: CV28447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129664557  PRNP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 4,680,378
GRCh38 20 4,699,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009087.1:g.18582A>G
NC_000020.11:g.4699732A>G
NC_000020.10:g.4680378A>G
NP_000302.1:p.Asn171Ser
More... 		11/24/2020 3 prime utr variant|missense|missense variant benign|likely benign|uncertain significance AllHighlyPenetrant; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT; none provided; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
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_001080121
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSSQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_000311
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSSQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080122
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSSQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_001080123
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSSQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*

Gene Symbol:PRNP
Accession:NM_183079
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGG
WGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
VYYRPMDEYSSQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG*
Variant Samples
Additional References at PubMed
PMID:10612329   PMID:12813570   PMID:14610121   PMID:22108575   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014348 CLINVAR
  RCV000020247 CLINVAR
  RCV000644585 CLINVAR
  RCV001580052 CLINVAR
  RCV001725931 CLINVAR
dbSNP (RS) rs16990018 CLINVAR
MedGen C1847650 CLINVAR
  C1864112 CLINVAR
  C3661900 CLINVAR
  C5679775 CLINVAR
  CN169374 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 176640 CLINVAR
  603218 CLINVAR
  606688 CLINVAR
OMIM Allele 176640.0018 CLINVAR