RGD:11624645 Rat Genome Database

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Variant: RGD:11624645 -  Homo sapiens

RGD ID: 11624645
RS ID: rs537449340
ClinVar ID: CV335690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127892525  PRNP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 4,667,151
GRCh38 20 4,686,505
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.5355C>T
NC_000020.11:g.4686505C>T
NC_000020.10:g.4667151C>T
NM_000311.3:c.-18C>T
More... 		01/12/2018 2kb upstream variant|5 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View
prion disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PRNP
Accession:NM_001080121
Location:5UTRS;EXON

Gene Symbol:PRNP
Accession:NM_183079
Location:5UTRS;EXON

Gene Symbol:PRNP
Accession:NM_001080122
Location:5UTRS;EXON

Gene Symbol:PRNP
Accession:NM_001080123
Location:5UTRS;EXON

Gene Symbol:PRNP
Accession:NM_000311
Location:5UTRS;EXON

Gene Symbol:PRNP
Accession:NM_001271561
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000388958 CLINVAR
dbSNP (RS) rs537449340 CLINVAR
MedGen C5679775 CLINVAR
NCBI Gene PRNP CLINVAR
OMIM 176640 CLINVAR