chr20:4699698:C>T Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,344-4,680,344 View the variant detail on this assembly version.
hg38 chr20:4,699,698-4,699,698

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.478C>T NP_000302.1:p.Gln160Ter
NM_001080121.1:c.478C>T NP_001073590.1:p.Gln160Ter
NM_001080122.1:c.478C>T NP_001073591.1:p.Gln160Ter
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 2011-04-01 no assertion criteria provided CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED germline Detail
Pathogenic 2023-11-24 criteria provided, single submitter Huntington disease-like 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Prion Diseases NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.478C>T (p.Gln160Ter) AND CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED ClinVar Detail
NM_000311.5(PRNP):c.478C>T (p.Gln160Ter) 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
rs80356711 dbSNP
Genome
hg38
Position
chr20:4,699,698-4,699,698
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser