chr20:4699424:TCATGGTGGTGGCTGGGGGCAGCC> Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,070-4,680,093 
hg38 chr20:4,699,424-4,699,447

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.204_227delTCATGGTGGTGGCTGGGGGCAGCC NP_000302.1:p.Pro84_Gln91del
NM_001080121.1:c.204_227delTCATGGTGGTGGCTGGGGGCAGCC NP_001073590.1:p.Pro84_Gln91del
NM_001080122.1:c.204_227delTCATGGTGGTGGCTGGGGGCAGCC NP_001073591.1:p.Pro84_Gln91del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv62971288 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
0.859 Creutzfeldt-Jakob disease NA CLINVAR Detail
0.360 Huntington disease-like 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET 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
-
Genome
hg38
Position
chr20:4,699,424-4,699,447
Variant Type
snv
Reference Allele
TCATGGTGGTGGCTGGGGGCAGCC
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0027
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
46
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8586
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3293733985557886E-4
Chromosome Counts in All Race (ExAC)
117840
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.0916496945010185E-5
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