Variant #0000001382 (NC_000009.12:g.117713324C>T, NM_138554.4:c.1196C>T (TLR4))

Individual ID 00000290
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.117713324C>T
Published as -
Reference Kek Heng Chua et al. (2016), dbSNP, ClinVar
DB-ID TLR4_000001 See all 3 reported entries
dbSNP ID rs4986791
Frequency 12/38
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-21 11:56:42 +08:00 (CST)
Date last edited 2021-08-29 15:15:54 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TLR4 NM_138554.4 +/. - c.1196C>T - r.(?) p.(Thr399Ile) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000305 DNA PCR TLR4 2 Nuur Athirah Binti Mohd Daud