chr20:4680216:C>T Detail (hg19) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,216-4,680,216
hg38 chr20:4,699,570-4,699,570 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.350C>T NP_000302.1:p.Ala117Val
NM_001080121.1:c.350C>T NP_001073590.1:p.Ala117Val
NM_001080122.1:c.350C>T NP_001073591.1:p.Ala117Val
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-10-01 no assertion criteria provided Gerstmann-Straussler-Scheinker syndrome germline Detail
Pathogenic 2017-10-02 criteria provided, single submitter Inborn genetic diseases 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
<0.001 cerebellar ataxia Our aim was to screen for the P102L and other six known PRNP gene mutations (P10... BeFree 18566986 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
0.481 Prion Diseases The relationships between the degree of cortical prion protein (PrP) deposition,... BeFree 14507340 Detail
0.481 Prion Diseases Cells expressing either PrPDeltaoct which lacks the octapeptide repeats or the p... BeFree 17697940 Detail
0.859 Creutzfeldt-Jakob disease The biophysical properties of PrP from Tg(A116V) mice and human GSS(A117V) revea... BeFree 19675240 Detail
0.004 Ataxia Tg(A116V) mice express approximately six times the endogenous levels of PrP, dev... BeFree 19675240 Detail
0.600 Gerstmann-Straussler-Scheinker Disease We conclude that GSS A117V is indeed a prion disease although the relative contr... BeFree 24086135 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region re... BeFree 11087738 Detail
0.481 Prion Diseases Inherited prion disease with an alanine to valine mutation at codon 117 in the p... BeFree 10506086 Detail
0.481 Prion Diseases Inherited prion disease A117V is not simply a proteinopathy but produces prions ... BeFree 24086135 Detail
0.600 Gerstmann-Straussler-Scheinker Disease A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused b... BeFree 19675240 Detail
0.481 Prion Diseases Why this family with prion disease (PrP-A117V) should present with ataxia instea... BeFree 7501157 Detail
0.588 fatal familial insomnia All Creutzfeldt-Jakob disease and fatal familial insomnia-associated prion prote... BeFree 17494694 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) AND Gerstmann-Straussler-Scheinker syndrome ClinVar Detail
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET 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
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 relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation ... DisGeNET Detail
Cells expressing either PrPDeltaoct which lacks the octapeptide repeats or the prion-disease-associa... DisGeNET Detail
The biophysical properties of PrP from Tg(A116V) mice and human GSS(A117V) revealed a similarly low ... DisGeNET Detail
Tg(A116V) mice express approximately six times the endogenous levels of PrP, develop progressive ata... DisGeNET Detail
We conclude that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP... DisGeNET Detail
A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivi... DisGeNET Detail
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. DisGeNET Detail
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to tra... DisGeNET Detail
A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation... DisGeNET Detail
Why this family with prion disease (PrP-A117V) should present with ataxia instead of dementia, which... DisGeNET Detail
All Creutzfeldt-Jakob disease and fatal familial insomnia-associated prion protein mutations partial... 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
rs74315402 dbSNP
Genome
hg19
Position
chr20:4,680,216-4,680,216
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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