Variant #0000252674 (NC_000001.10:g.247587389A>G, NLRP3(NM_004895.4):c.644A>G)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.247587389A>G |
DNA change (hg38) |
g.247424087A>G |
Published as |
NLRP3(NM_001243133.1):c.638A>G (p.H213R), NLRP3(NM_001243133.2):c.638A>G (p.H213R) |
ISCN |
- |
DB-ID |
NLRP3_000021 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |

Variant on transcripts
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