ClinVar

NM_138554.5(TLR4):c.1779G>A (p.Trp593Ter)

Gene:

TLR4:toll like receptor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.1

Genomic location:

• Chr9: 117713907 (on Assembly GRCh38)
• Chr9: 120476185 (on Assembly GRCh37)

Preferred name:

NM_138554.5(TLR4):c.1779G>A (p.Trp593Ter)

HGVS:

• NC_000009.12:g.117713907G>A
• NG_011475.2:g.14505G>A
• NM_003266.4:c.1659G>A
• NM_138554.5:c.1779G>AMANE SELECT
• NM_138557.3:c.1179G>A
• NP_003257.1:p.Trp553Ter
• NP_612564.1:p.Trp593Ter
• NP_612567.1:p.Trp393Ter
• LRG_320t1:c.1779G>A
• LRG_320:g.14505G>A
• LRG_320p1:p.Trp593Ter
• NC_000009.11:g.120476185G>A
• NG_011475.1:g.14726G>A

This HGVS expression did not pass validation

Protein change:

W393*

Links:

dbSNP: rs5030720

NCBI 1000 Genomes Browser:

rs5030720

Molecular consequence:

• NM_003266.4:c.1659G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_138554.5:c.1779G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_138557.3:c.1179G>A - nonsense - [Sequence Ontology: SO:0001587]