chr20:4699752:G>A Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,398-4,680,398 View the variant detail on this assembly version.
hg38 chr20:4,699,752-4,699,752

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.532G>A NP_000302.1:p.Asp178Asn
NM_001080121.1:c.532G>A NP_001073590.1:p.Asp178Asn
NM_001080122.1:c.532G>A NP_001073591.1:p.Asp178Asn
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-11-26 no assertion criteria provided Inherited Creutzfeldt-Jakob disease germline Detail
Pathogenic 2008-11-26 no assertion criteria provided fatal familial insomnia germline Detail
Likely pathogenic criteria provided, single submitter fatal familial insomnia germline Detail
Pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Huntington disease-like 1 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 FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N m... BeFree 8647879 Detail
0.588 fatal familial insomnia NA CLINVAR Detail
0.859 Creutzfeldt-Jakob disease NA CLINVAR Detail
0.481 Prion Diseases Indeed, the phenotypical expression of two of the most common mutations in the h... BeFree 19684471 Detail
0.588 fatal familial insomnia Here we have investigated the stability and Cu(II) binding properties of three r... BeFree 12609901 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 Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseas... BeFree 23430483 Detail
0.024 Creutzfeldt-Jakob Disease, Sporadic Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease car... BeFree 20872767 Detail
0.859 Creutzfeldt-Jakob disease Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion prot... BeFree 24118545 Detail
0.588 fatal familial insomnia We investigated the allelic origin of PrP(res) in brains of subjects heterozygou... BeFree 9288728 Detail
0.481 Prion Diseases Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob diseas... BeFree 7767490 Detail
0.859 Creutzfeldt-Jakob disease Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)... BeFree 21071944 Detail
0.859 Creutzfeldt-Jakob disease We investigated the allelic origin of PrP(res) in brains of subjects heterozygou... BeFree 9288728 Detail
0.588 fatal familial insomnia FFI is associated with an aspartic acid to asparagine mutation at codon 178 of t... BeFree 9270595 Detail
0.588 fatal familial insomnia Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)... BeFree 21071944 Detail
0.588 fatal familial insomnia The D178N mutation of the prion protein (PrP) results in the hereditary prion di... BeFree 25281825 Detail
0.481 Prion Diseases The D178N mutation of the prion protein (PrP) results in the hereditary prion di... BeFree 25281825 Detail
0.859 Creutzfeldt-Jakob disease Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct fr... BeFree 12849238 Detail
0.859 Creutzfeldt-Jakob disease The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial... BeFree 9531435 Detail
0.588 fatal familial insomnia These findings underline the clear-cut distinction between the neuropathological... BeFree 24118545 Detail
0.588 fatal familial insomnia Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct fr... BeFree 12849238 Detail
0.588 fatal familial insomnia Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseas... BeFree 23430483 Detail
0.588 fatal familial insomnia Recombinant human prion protein mutants huPrP D178N/M129 (FFI) and huPrP+9OR (fC... BeFree 12356908 Detail
0.588 fatal familial insomnia The authors present clinical, sleep, and neuroendocrine features of a patient wi... BeFree 15623717 Detail
0.588 fatal familial insomnia We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation ... BeFree 22609023 Detail
0.588 fatal familial insomnia The mutation D178N in the PRNP gene associated with the M129 genotype is usually... BeFree 19571725 Detail
0.588 fatal familial insomnia The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial... BeFree 9531435 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.4(PRNP):c.[385A>G;532G>A] AND Inherited Creutzfeldt-Jakob disease ClinVar Detail
NM_000311.4(PRNP):c.[385A>G;532G>A] AND Fatal familial insomnia ClinVar Detail
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) AND Fatal familial insomnia ClinVar Detail
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) AND not provided ClinVar Detail
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) AND Huntington disease-like 1 ClinVar Detail
NA DisGeNET Detail
FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP g... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Indeed, the phenotypical expression of two of the most common mutations in the human PRNP gene assoc... DisGeNET Detail
Here we have investigated the stability and Cu(II) binding properties of three recombinant variants ... 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
Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by... DisGeNET Detail
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178... DisGeNET Detail
Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a ... DisGeNET Detail
We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N muta... DisGeNET Detail
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD178) are two p... DisGeNET Detail
Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phen... DisGeNET Detail
We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N muta... DisGeNET Detail
FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) ... DisGeNET Detail
Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phen... DisGeNET Detail
The D178N mutation of the prion protein (PrP) results in the hereditary prion disease fatal familial... DisGeNET Detail
The D178N mutation of the prion protein (PrP) results in the hereditary prion disease fatal familial... DisGeNET Detail
Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a f... DisGeNET Detail
The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and ... DisGeNET Detail
These findings underline the clear-cut distinction between the neuropathological features of Creutzf... DisGeNET Detail
Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a f... DisGeNET Detail
Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by... DisGeNET Detail
Recombinant human prion protein mutants huPrP D178N/M129 (FFI) and huPrP+9OR (fCJD) reveal proteinas... DisGeNET Detail
The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confi... DisGeNET Detail
We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation and the methionine/m... DisGeNET Detail
The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with fam... DisGeNET Detail
The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and ... 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
rs74315403 dbSNP
Genome
hg38
Position
chr20:4,699,752-4,699,752
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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