chr1:247588066:G>C Detail (hg19) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,588,066-247,588,066
hg38 chr1:247,424,764-247,424,764 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.1315G>C NP_001120934.1:p.Ala439Pro
NM_001243133.1:c.1315G>C NP_001230062.1:p.Ala439Pro
NM_004895.4:c.1315G>C NP_004886.3:p.Ala439Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other somatic MGS000001
(TMGS000154)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided familial cold autoinflammatory syndrome 1 not provided 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

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.1315G>C (p.Ala439Pro) AND Familial cold autoinflammatory syndrome 1 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
rs180177430 dbSNP
Genome
hg19
Position
chr1:247,588,066-247,588,066
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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