chr1:247424350:G>T Detail (hg38) (NLRP3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:247,587,652-247,587,652 View the variant detail on this assembly version. |
hg38 | chr1:247,424,350-247,424,350 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127462.2:c.901G>T | NP_001120934.1:p.Gly301Cys |
NM_001243133.1:c.901G>T | NP_001230062.1:p.Gly301Cys | |
NM_004895.4:c.901G>T | NP_004886.3:p.Gly301Cys |
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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2016-10-01 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Amyloid nephropathy | Muckle-Wells syndrome was most likely, although no amyloid nephropathy was obser... | BeFree | 16556280 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001243133.2(NLRP3):c.901G>T (p.Gly301Cys) AND not provided | ClinVar | Detail |
Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene muta... | 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
- rs201504984 dbSNP
- Genome
- hg38
- Position
- chr1:247,424,350-247,424,350
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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