chr17:61994725:C>T Detail (hg19) (GH1)

Information

Genome

Assembly Position
hg19 chr17:61,994,725-61,994,725
hg38 chr17:63,917,365-63,917,365 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000515.4:c.598G>A NP_000506.2:p.Glu200Lys
NM_022560.3:c.478G>A NP_072054.1:p.Glu160Lys
NM_022559.3:c.553G>A NP_072053.1:p.Glu185Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 139250 OMIM
HGNC 4261 HGNC
Ensembl ENSG00000259384 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58380348 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
<0.001 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
Annotation

Annotations

DescrptionSourceLinks
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

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
rs373184101 dbSNP
Genome
hg19
Position
chr17:61,994,725-61,994,725
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs373184101
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6476093188783075E-5
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