ClinVar

NM_001318789.2(TLR2):c.489T>A (p.Thr163=)

Gene:

TLR2:toll like receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 153703396 (on Assembly GRCh38)
• Chr4: 154624548 (on Assembly GRCh37)

Preferred name:

NM_001318789.2(TLR2):c.489T>A (p.Thr163=)

HGVS:

• NC_000004.12:g.153703396T>A
• NG_016229.1:g.24108T>A
• NM_001318787.2:c.489T>A
• NM_001318789.2:c.489T>AMANE SELECT
• NM_001318790.2:c.489T>A
• NM_001318791.2:c.489T>A
• NM_001318793.2:c.489T>A
• NM_001318795.2:c.489T>A
• NM_001318796.2:c.489T>A
• NM_003264.5:c.489T>A
• NP_001305716.1:p.Thr163=
• NP_001305718.1:p.Thr163=
• NP_001305719.1:p.Thr163=
• NP_001305720.1:p.Thr163=
• NP_001305722.1:p.Thr163=
• NP_001305724.1:p.Thr163=
• NP_001305725.1:p.Thr163=
• NP_003255.2:p.Thr163=
• NC_000004.11:g.154624548T>A
• NM_003264.4:c.489T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs145457376

NCBI 1000 Genomes Browser:

rs145457376

Molecular consequence:

• NM_001318787.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318789.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318790.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318791.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318793.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318795.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318796.2:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003264.5:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]