chr20:4680046:TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC> Detail (hg19) (PRNP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:4,680,046-4,680,093 |
hg38 | chr20:4,699,400-4,699,447 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000311.3:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | NP_000302.1:p.Pro76_Gln91del |
NM_001080121.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | NP_001073590.1:p.Pro76_Gln91del | |
NM_001080122.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | NP_001073591.1:p.Pro76_Gln91del |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-03-27 | criteria provided, single submitter | Huntington disease-like 1 |
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Detail |
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
Descrption | Source | Links |
---|---|---|
NM_000311.5(PRNP):c.180_227del (p.60_67PHGGGWGQ[2]) AND Huntington disease-like 1 | ClinVar | Detail |
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
- -
- dbSNP
- rs193922906 dbSNP
- Genome
- hg19
- Position
- chr20:4,680,046-4,680,093
- Variant Type
- snv
- Reference Allele
- TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
- Alternative Allele
- -
Genome browser