ClinVar

NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.1

Genomic location:

• Chr9: 117713024 (on Assembly GRCh38)
• Chr9: 120475302 (on Assembly GRCh37)

Preferred name:

NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)

HGVS:

• NC_000009.12:g.117713024A>G
• NG_011475.1:g.13843A>G
• NG_011475.2:g.13622A>G
• NM_003266.4:c.776A>G
• NM_138554.5:c.896A>GMANE SELECT
• NM_138557.3:c.296A>G
• NP_003257.1:p.Asp259Gly
• NP_612564.1:p.Asp299Gly
• NP_612567.1:p.Asp99Gly
• LRG_320t1:c.896A>G
• LRG_320:g.13622A>G
• LRG_320p1:p.Asp299Gly
• NC_000009.11:g.120475302A>G
• O00206:p.Asp299Gly

This HGVS expression did not pass validation

Protein change:

D259G; Asp299Gly

Links:

UniProtKB: O00206#VAR_012739; OMIM: 603030.0001; dbSNP: rs4986790

NCBI 1000 Genomes Browser:

rs4986790

Molecular consequence:

• NM_003266.4:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_138554.5:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_138557.3:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Increased function