chr12:6442656:A>G Detail (hg19) (TNFRSF1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:6,442,656-6,442,656 |
hg38 | chr12:6,333,490-6,333,490 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001065.3:c.349T>C | NP_001056.1:p.Cys117Arg |
Ensemble | ENST00000440083.7:c.349T>C | ENST00000440083.7:p.Cys117Arg |
ENST00000540022.5:c.220T>C | ENST00000540022.5:p.Cys74Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1999-04-02 | no assertion criteria provided | TNF receptor-associated periodic fever syndrome (TRAPS) |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.582 | TNF receptor-associated periodic fever syndrome (TRAPS) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) AND TNF receptor-associated periodic fever syndrome (TR... | 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
- rs104895221 dbSNP
- Genome
- hg19
- Position
- chr12:6,442,656-6,442,656
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser