chr20:4680258:G>T Detail (hg19) (PRNP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:4,680,258-4,680,258 |
hg38 | chr20:4,699,612-4,699,612 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000311.3:c.392G>T | NP_000302.1:p.Gly131Val |
NM_001080121.1:c.392G>T | NP_001073590.1:p.Gly131Val | |
NM_001080122.1:c.392G>T | NP_001073591.1:p.Gly131Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.600 | Gerstmann-Straussler-Scheinker Disease | NA | CLINVAR | Detail | |
0.600 | Gerstmann-Straussler-Scheinker Disease | A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disea... | BeFree | 11709001 | Detail |
0.600 | Gerstmann-Straussler-Scheinker Disease | A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V muta... | BeFree | 21760536 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) AND Gerstmann-Straussler-Scheinker syndrome | ClinVar | Detail |
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) AND Huntington disease-like 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. | DisGeNET | Detail |
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion pr... | 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
- rs74315410 dbSNP
- Genome
- hg19
- Position
- chr20:4,680,258-4,680,258
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121278
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.24551856066228E-6
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