chr1:247587536:T>C Detail (hg19) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,587,536-247,587,536
hg38 chr1:247,424,234-247,424,234 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_183395.2:c.785T>C NP_899632.1:p.Val262Ala
NM_001127462.2:c.785T>C NP_001120934.1:p.Val262Ala
NM_001243133.1:c.785T>C NP_001230062.1:p.Val262Ala
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
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.785T>C (p.Val262Ala) 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
rs104895392 dbSNP
Genome
hg19
Position
chr1:247,587,536-247,587,536
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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