chr1:247448734:G>C Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,612,036-247,612,036 View the variant detail on this assembly version.
hg38 chr1:247,448,734-247,448,734

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.*230G>C
NM_001243133.1:c.*230G>C
NM_004895.4:c.*230G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.572
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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 tgv5543235 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-04-27 criteria provided, single submitter Chronic infantile neurological, cutaneous and articular syndrome germline Detail
Benign 2017-04-27 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness germline Detail
Benign 2017-04-27 criteria provided, single submitter familial cold autoinflammatory syndrome 1 germline Detail
Benign 2024-01-19 criteria provided, single submitter Cryopyrin associated periodic syndrome germline Detail
Benign 2022-01-14 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Benign 2022-10-05 criteria provided, single submitter atypical hemolytic-uremic syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.020 HIV Infections The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly... BeFree 22227487 Detail
<0.001 Human T-cell lymphotropic virus 1 infection NLRP3 rs10754558 G/G was associated with protection against HTLV-1 infection (p ... BeFree 25411003 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.*230G>C AND Chronic infantile neurological, cutaneous and articular syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.*230G>C AND Familial amyloid nephropathy with urticaria AND deafness ClinVar Detail
NM_001243133.2(NLRP3):c.*230G>C AND Familial cold autoinflammatory syndrome 1 ClinVar Detail
NM_001243133.2(NLRP3):c.*230G>C AND Cryopyrin associated periodic syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.*230G>C AND Autoinflammatory syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.*230G>C AND Atypical hemolytic-uremic syndrome ClinVar Detail
The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly associated to the H... DisGeNET Detail
NLRP3 rs10754558 G/G was associated with protection against HTLV-1 infection (p = 0.012; odds ratio ... 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
rs10754558 dbSNP
Genome
hg38
Position
chr1:247,448,734-247,448,734
Variant Type
snv
Reference Allele
G
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs10754558
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5721
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9588
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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