ClinVar

NM_001061.7(TBXAS1):c.924G>A (p.Gly308=)

Gene:

TBXAS1:thromboxane A synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 139962023 (on Assembly GRCh38)
• Chr7: 139661822 (on Assembly GRCh37)

Preferred name:

NM_001061.7(TBXAS1):c.924G>A (p.Gly308=)

HGVS:

• NC_000007.14:g.139962023G>A
• NG_008422.2:g.188642G>A
• NM_001061.7:c.924G>AMANE SELECT
• NM_001130966.5:c.924G>A
• NM_001166253.4:c.1062G>A
• NM_001166254.4:c.723G>A
• NM_001314028.4:c.867G>A
• NM_001366537.3:c.741G>A
• NM_030984.6:c.924G>A
• NP_001052.3:p.Gly308=
• NP_001124438.2:p.Gly308=
• NP_001159725.2:p.Gly354=
• NP_001159726.1:p.Gly241=
• NP_001300957.1:p.Gly289=
• NP_001353466.1:p.Gly247=
• NP_112246.3:p.Gly308=
• LRG_579:g.188642G>A
• NC_000007.13:g.139661822G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1313888915

NCBI 1000 Genomes Browser:

rs1313888915

Molecular consequence:

• NM_001061.7:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130966.5:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166253.4:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166254.4:c.723G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001314028.4:c.867G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366537.3:c.741G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030984.6:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1