Variant #0000638920 (NC_000001.10:g.247587646A>G, NLRP3(NM_004895.4):c.901A>G)
Individual ID |
00282028 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.247587646A>G |
DNA change (hg38) |
g.247424344A>G |
Published as |
- |
ISCN |
- |
DB-ID |
NLRP3_000040 See all 2 reported entries |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: Verma 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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