chr20:4680494:G>A Detail (hg19) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,494-4,680,494
hg38 chr20:4,699,848-4,699,848 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.628G>A NP_000302.1:p.Val210Ile
NM_001080121.1:c.628G>A NP_001073590.1:p.Val210Ile
NM_001080122.1:c.628G>A NP_001073591.1:p.Val210Ile
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 low penetrance
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 1999-10-15 no assertion criteria provided Inherited Creutzfeldt-Jakob disease germline Detail
Pathogenic low penetrance 2023-10-03 criteria provided, single submitter Huntington disease-like 1 germline Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Likely pathogenic 2021-10-26 criteria provided, single submitter fatal familial insomnia,Huntington disease-like 1,Spongiform encephalopathy with neuropsychiatric features,Inherited Creutzfeldt-Jakob disease,Kuru, susceptibility to,Gerstmann-Straussler-Scheinker syndrome unknown Detail
Pathogenic 2024-01-29 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Prion Diseases NA CLINVAR Detail
<0.001 cerebellar ataxia Our aim was to screen for the P102L and other six known PRNP gene mutations (P10... BeFree 18566986 Detail
0.859 Creutzfeldt-Jakob disease NA CLINVAR Detail
0.481 Prion Diseases Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutatio... BeFree 24809690 Detail
0.588 fatal familial insomnia Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutatio... BeFree 24809690 Detail
0.004 Central neuroblastoma Expression of wild-type and V210I mutant prion protein in human neuroblastoma ce... BeFree 10454141 Detail
0.859 Creutzfeldt-Jakob disease Mutation at codon 210 (V210I) of the prion protein gene in a North African patie... BeFree 10526198 Detail
0.859 Creutzfeldt-Jakob disease Different mechanisms can be hypothesized to explain the pathogenic role of mutan... BeFree 25450391 Detail
0.481 Prion Diseases Toward the molecular basis of inherited prion diseases: NMR structure of the hum... BeFree 21839748 Detail
0.004 neuroblastoma Expression of wild-type and V210I mutant prion protein in human neuroblastoma ce... BeFree 10454141 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND Inherited Creutzfeldt-Jakob disease ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND Huntington disease-like 1 ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND multiple conditions ClinVar Detail
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET Detail
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2... DisGeNET Detail
NA DisGeNET Detail
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I a... DisGeNET Detail
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I a... DisGeNET Detail
Expression of wild-type and V210I mutant prion protein in human neuroblastoma cells. DisGeNET Detail
Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-... DisGeNET Detail
Different mechanisms can be hypothesized to explain the pathogenic role of mutant residues: V210I an... DisGeNET Detail
Toward the molecular basis of inherited prion diseases: NMR structure of the human prion protein wit... DisGeNET Detail
Expression of wild-type and V210I mutant prion protein in human neuroblastoma cells. 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
rs74315407 dbSNP
Genome
hg19
Position
chr20:4,680,494-4,680,494
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)
121364
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.647935137272997E-5
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