Variant #0000169288 (NC_000009.11:g.120466779_120466784del, NM_138554.4:c.29_34del (TLR4))

Individual ID 00103999
Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.120466779_120466784del
DNA change (hg38) g.117704501_117704506del
Published as NM_138554.4(TLR4):c.29_34del p.(Thr10_Leu11del)
ISCN -
DB-ID TLR4_000001
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marjolijn JL Ligtenberg
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-04-28 08:15:46 +02:00 (CEST)
Date last edited 2025-03-09 06:52:36 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TLR4 NM_138554.4 ./. - c.29_34del r.(?) p.(Thr10_Leu11del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104470 DNA SEQ-NG - - - 11 Marjolijn JL Ligtenberg


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