chr1:247424350:G>A 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>A NP_001120934.1:p.Gly301Ser
NM_001243133.1:c.901G>A NP_001230062.1:p.Gly301Ser
NM_004895.4:c.901G>A NP_004886.3:p.Gly301Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606416 OMIM
HGNC 16400 HGNC
Ensembl ENSG00000162711 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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

DescrptionSourceLinks
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
A
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