chr20:4680171:C>T Detail (hg19) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,171-4,680,171
hg38 chr20:4,699,525-4,699,525 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.305C>T NP_000302.1:p.Pro102Leu
NM_001080121.1:c.305C>T NP_001073590.1:p.Pro102Leu
NM_001080122.1:c.305C>T NP_001073591.1:p.Pro102Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic either cerebellar ataxia without significant cognitive impairments germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic progressive dementia with mild dystonia germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic ataxia germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-07-05 no assertion criteria provided Gerstmann-Straussler-Scheinker syndrome germline Detail
Pathogenic 2023-07-19 criteria provided, single submitter Huntington disease-like 1 germline Detail
Pathogenic 2021-02-26 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-01-04 criteria provided, single submitter Spongiform encephalopathy with neuropsychiatric features unknown Detail
Pathogenic 2022-05-04 criteria provided, multiple submitters, no conflicts Inherited Creutzfeldt-Jakob disease 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
0.481 Prion Diseases Eight patients with prion diseases were examined: three with sporadic Creutzfeld... BeFree 15716520 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Eight patients with prion diseases were examined: three with sporadic Creutzfeld... BeFree 15716520 Detail
<0.001 cerebellar ataxia Our aim was to screen for the P102L and other six known PRNP gene mutations (P10... BeFree 18566986 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, whic... BeFree 9153600 Detail
0.600 Gerstmann-Straussler-Scheinker Disease We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 s... BeFree 10483920 Detail
0.481 Prion Diseases Here we introduce several PRNP gene mutations (such as, PrP-KDEL, PrP-3AV, PrP-A... BeFree 21298055 Detail
<0.001 Creutzfeldt-Jakob Disease, Sporadic The relationships between the degree of cortical prion protein (PrP) deposition,... BeFree 14507340 Detail
0.600 Gerstmann-Straussler-Scheinker Disease The stability properties of the P102L variant were indistinguishable from those ... BeFree 9813003 Detail
0.588 fatal familial insomnia To test this hypothesis, we characterized the recombinant variants of human PrP(... BeFree 9813003 Detail
0.012 New Variant Creutzfeldt-Jakob Disease Here we report analysis of protease resistant disease-related prion protein (PrP... BeFree 16415305 Detail
0.481 Prion Diseases The relationships between the degree of cortical prion protein (PrP) deposition,... BeFree 14507340 Detail
0.859 Creutzfeldt-Jakob disease A proline-to-leucine substitution at prion protein (PrP) residue 102 (P102L), cl... BeFree 16597650 Detail
0.481 Prion Diseases Here we report that this peptide-induced disease can be serially passaged in Tg1... BeFree 14747574 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Different patterns of truncated prion protein fragments correlate with distinct ... BeFree 9653185 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Cell surface accumulation of a truncated transmembrane prion protein in Gerstman... BeFree 11967261 Detail
0.001 Peripheral neuropathy Besides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101... BeFree 8698234 Detail
0.859 Creutzfeldt-Jakob disease In contrast, a recent case with proven P102L mutation of the PRNP gene had rapid... BeFree 8520719 Detail
0.009 Presenile dementia In contrast, a recent case with proven P102L mutation of the PRNP gene had rapid... BeFree 8520719 Detail
0.001 Ataxic Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene leadi... BeFree 1686599 Detail
0.001 Ataxic Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene, lead... BeFree 1684745 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal do... BeFree 21167505 Detail
0.481 Prion Diseases Phenotypic heterogeneity in inherited prion disease (P102L) is associated with d... BeFree 16597650 Detail
0.009 Presenile dementia Hyperphosphorylated tau deposition parallels prion protein burden in a case of G... BeFree 12200619 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Transgenic mice expressing high levels of MoPrP-P101L, corresponding to the GSS ... BeFree 8105771 Detail
0.481 Prion Diseases Ataxia is a frequently reported symptom in prion diseases (PD) and it is charact... BeFree 18566986 Detail
0.001 myopathy Besides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101... BeFree 8698234 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Allelic origin of protease-sensitive and protease-resistant prion protein isofor... BeFree 22384235 Detail
0.481 Prion Diseases A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann... BeFree 19696976 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann... BeFree 19696976 Detail
0.481 Prion Diseases Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal do... BeFree 21167505 Detail
0.028 dementia Hyperphosphorylated tau deposition parallels prion protein burden in a case of G... BeFree 12200619 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Neuropathological features of a case with schizophrenia and prion protein gene P... BeFree 12682740 Detail
0.481 Prion Diseases Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spong... BeFree 12682740 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Molecular genetic analysis of the PRNP gene showed the heterozygous codon P102L ... BeFree 10851377 Detail
0.024 Creutzfeldt-Jakob Disease, Sporadic Proteinase K (PK)-resistant prion protein (PrPres) isoforms were examined in thr... BeFree 9667781 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine a... BeFree 9030710 Detail
0.010 schizophrenia Neuropathological features of a case with schizophrenia and prion protein gene P... BeFree 12682740 Detail
0.588 fatal familial insomnia We found that the main PK cleavage sites of PrP(Sc) are located at residue 97 in... BeFree 11214924 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A point mutation of the prion protein gene (PRNP) at codon 102 resulting in the ... BeFree 20154442 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Pro----leu change at position 102 of prion protein is the most common but not th... BeFree 2783132 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A mutation equivalent to P102L in the human PrP gene, associated with Gerstmann-... BeFree 10581259 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Hyperphosphorylated tau deposition parallels prion protein burden in a case of G... BeFree 12200619 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Substitution of leucine for proline at codon 102 of the prion protein gene has b... BeFree 1685324 Detail
0.600 Gerstmann-Straussler-Scheinker Disease Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred... BeFree 23944754 Detail
0.028 dementia In contrast, a recent case with proven P102L mutation of the PRNP gene had rapid... BeFree 8520719 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Gerstmann-Straussler-Scheinker syndrome ClinVar Detail
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Huntington disease-like 1 ClinVar Detail
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND not provided ClinVar Detail
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Spongiform encephalopathy with neuropsychiatric feature... ClinVar Detail
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Inherited Creutzfeldt-Jakob disease ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ... DisGeNET Detail
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ... DisGeNET Detail
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2... DisGeNET Detail
A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution... DisGeNET Detail
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), ... DisGeNET Detail
Here we introduce several PRNP gene mutations (such as, PrP-KDEL, PrP-3AV, PrP-A117V, PrP-G114V, PrP... DisGeNET Detail
The relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation ... DisGeNET Detail
The stability properties of the P102L variant were indistinguishable from those of wild-type PrP, wh... DisGeNET Detail
To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing p... DisGeNET Detail
Here we report analysis of protease resistant disease-related prion protein (PrP(Sc)) isoforms from ... DisGeNET Detail
The relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation ... DisGeNET Detail
A proline-to-leucine substitution at prion protein (PrP) residue 102 (P102L), classically associated... DisGeNET Detail
Here we report that this peptide-induced disease can be serially passaged in Tg196 mice and that the... DisGeNET Detail
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L ... DisGeNET Detail
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheink... DisGeNET Detail
Besides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101L) mice suffered fro... DisGeNET Detail
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dement... DisGeNET Detail
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dement... DisGeNET Detail
Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene leading to the substituti... DisGeNET Detail
Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene, leading to the substitut... DisGeNET Detail
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited pri... DisGeNET Detail
Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagat... DisGeNET Detail
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-... DisGeNET Detail
Transgenic mice expressing high levels of MoPrP-P101L, corresponding to the GSS point mutation (P102... DisGeNET Detail
Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann... DisGeNET Detail
Besides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101L) mice suffered fro... DisGeNET Detail
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Strä... DisGeNET Detail
A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinke... DisGeNET Detail
A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinke... DisGeNET Detail
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited pri... DisGeNET Detail
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-... DisGeNET Detail
Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before... DisGeNET Detail
Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spongiform encephalopathy... DisGeNET Detail
Molecular genetic analysis of the PRNP gene showed the heterozygous codon P102L mutation of classic ... DisGeNET Detail
Proteinase K (PK)-resistant prion protein (PrPres) isoforms were examined in three patients with Ger... DisGeNET Detail
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. DisGeNET Detail
Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before... DisGeNET Detail
We found that the main PK cleavage sites of PrP(Sc) are located at residue 97 in FFI, and residue 82... DisGeNET Detail
A point mutation of the prion protein gene (PRNP) at codon 102 resulting in the substitution of prol... DisGeNET Detail
Pro----leu change at position 102 of prion protein is the most common but not the sole mutation rela... DisGeNET Detail
A mutation equivalent to P102L in the human PrP gene, associated with Gerstmann-Straussler syndrome ... DisGeNET Detail
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-... DisGeNET Detail
Substitution of leucine for proline at codon 102 of the prion protein gene has been found in several... DisGeNET Detail
Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mut... DisGeNET Detail
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dement... 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
rs74315401 dbSNP
Genome
hg19
Position
chr20:4,680,171-4,680,171
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser