chr20:4680499:G>C Detail (hg19) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,499-4,680,499
hg38 chr20:4,699,853-4,699,853 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.633G>C NP_000302.1:p.Glu211Asp
NM_001080121.1:c.633G>C NP_001073590.1:p.Glu211Asp
NM_001080122.1:c.633G>C NP_001073591.1:p.Glu211Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 2012-12-15 no assertion criteria provided Gerstmann-Straussler-Scheinker syndrome germline Detail
Uncertain significance 2021-10-05 criteria provided, single submitter Huntington disease-like 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.600 Gerstmann-Straussler-Scheinker Disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) AND Gerstmann-Straussler-Scheinker syndrome ClinVar Detail
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) AND Huntington disease-like 1 ClinVar Detail
NA 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
rs398122413 dbSNP
Genome
hg19
Position
chr20:4,680,499-4,680,499
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser