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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1999-10-15 | no assertion criteria provided | Inherited Creutzfeldt-Jakob disease |
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Detail |
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2023-10-03 | criteria provided, single submitter | Huntington disease-like 1 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
![]() |
Detail |
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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 |
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Detail |
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2024-01-29 | criteria provided, single submitter | Inborn genetic diseases |
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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
Descrption | Source | Links |
---|---|---|
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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