chr20:4699780:A>G Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,426-4,680,426 View the variant detail on this assembly version.
hg38 chr20:4,699,780-4,699,780

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.560A>G NP_000302.1:p.His187Arg
NM_001080121.1:c.560A>G NP_001073590.1:p.His187Arg
NM_001080122.1:c.560A>G NP_001073591.1:p.His187Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176640 OMIM
HGNC 9449 HGNC
Ensembl ENSG00000171867 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-04-12 no assertion criteria provided Gerstmann-Straussler-Scheinker syndrome germline Detail
Pathogenic 2005-04-12 no assertion criteria provided Spongiform encephalopathy with neuropsychiatric features germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.600 Gerstmann-Straussler-Scheinker Disease NA CLINVAR Detail
0.481 Prion Diseases NA CLINVAR Detail
0.360 Spongiform encephalopathy with neuropsychiatric features NA CLINVAR Detail
0.009 Presenile dementia Described is a large family with an autosomal dominant dementia associated with ... BeFree 15824374 Detail
0.005 Encephalopathies Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a ... BeFree 10953183 Detail
0.481 Prion Diseases A variant of prion encephalopathy associated with the novel H187R mutation in th... BeFree 10953183 Detail
0.028 dementia Described is a large family with an autosomal dominant dementia associated with ... BeFree 15824374 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.560A>G (p.His187Arg) AND Gerstmann-Straussler-Scheinker syndrome ClinVar Detail
NM_000311.5(PRNP):c.560A>G (p.His187Arg) AND Spongiform encephalopathy with neuropsychiatric feature... ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in... DisGeNET Detail
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. DisGeNET Detail
A variant of prion encephalopathy associated with the novel H187R mutation in the PRNP gene displays... DisGeNET Detail
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs74315413 dbSNP
Genome
hg38
Position
chr20:4,699,780-4,699,780
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser