chr1:247425154:G>C Detail (hg38) (NLRP3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:247,588,456-247,588,456 View the variant detail on this assembly version. |
hg38 | chr1:247,425,154-247,425,154 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127462.2:c.1705G>C | NP_001120934.1:p.Gly569Arg |
NM_001243133.1:c.1705G>C | NP_001230062.1:p.Gly569Arg | |
NM_004895.4:c.1705G>C | NP_004886.3:p.Gly569Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.567 | Familial cold urticaria | NA | CLINVAR | Detail | |
0.567 | Muckle-Wells syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) AND Familial amyloid nephropathy with urticaria AND de... | ClinVar | Detail |
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) AND Familial cold autoinflammatory syndrome 1 | ClinVar | 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
- rs121908151 dbSNP
- Genome
- hg38
- Position
- chr1:247,425,154-247,425,154
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser