chr20:4699843:G>A Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,489-4,680,489 View the variant detail on this assembly version.
hg38 chr20:4,699,843-4,699,843

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.623G>A NP_000302.1:p.Arg208His
NM_001080121.1:c.623G>A NP_001073590.1:p.Arg208His
NM_001080122.1:c.623G>A NP_001073591.1:p.Arg208His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv406662588 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2006-03-01 no assertion criteria provided Inherited Creutzfeldt-Jakob disease germline Detail
Likely pathogenic 2023-03-14 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-08-17 criteria provided, single submitter Huntington disease-like 1 germline Detail
Likely pathogenic 2022-11-03 criteria provided, single submitter PRNP-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Prion Diseases NA CLINVAR Detail
0.859 Creutzfeldt-Jakob disease NA CLINVAR Detail
0.859 Creutzfeldt-Jakob disease Different mechanisms can be hypothesized to explain the pathogenic role of mutan... BeFree 25450391 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protei... BeFree 15753435 Detail
0.012 Creutzfeldt-Jakob Disease, Familial To report the clinical and neuropathological features in the first patient seen,... BeFree 16533975 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion prote... BeFree 15739100 Detail
0.859 Creutzfeldt-Jakob disease The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation ... BeFree 21791975 Detail
0.024 Creutzfeldt-Jakob Disease, Sporadic The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jak... BeFree 15753435 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.623G>A (p.Arg208His) AND Inherited Creutzfeldt-Jakob disease ClinVar Detail
NM_000311.5(PRNP):c.623G>A (p.Arg208His) AND not provided ClinVar Detail
NM_000311.5(PRNP):c.623G>A (p.Arg208His) AND Huntington disease-like 1 ClinVar Detail
NM_000311.5(PRNP):c.623G>A (p.Arg208His) AND PRNP-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Different mechanisms can be hypothesized to explain the pathogenic role of mutant residues: V210I an... DisGeNET Detail
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. DisGeNET Detail
To report the clinical and neuropathological features in the first patient seen, to our knowledge, w... DisGeNET Detail
Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a... DisGeNET Detail
The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP. DisGeNET Detail
The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jakob disease (CJD) but... 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
rs74315412 dbSNP
Genome
hg38
Position
chr20:4,699,843-4,699,843
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121372
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.239132584121544E-5
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