ClinVar

NM_001061.7(TBXAS1):c.1074C>T (p.Ala358=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 139962173 (on Assembly GRCh38)
• Chr7: 139661972 (on Assembly GRCh37)

Preferred name:

NM_001061.7(TBXAS1):c.1074C>T (p.Ala358=)

HGVS:

• NC_000007.14:g.139962173C>T
• NG_008422.2:g.188792C>T
• NM_001061.7:c.1074C>TMANE SELECT
• NM_001130966.5:c.1074C>T
• NM_001166253.4:c.1212C>T
• NM_001166254.4:c.873C>T
• NM_001314028.4:c.1017C>T
• NM_001366537.3:c.891C>T
• NM_030984.6:c.1074C>T
• NP_001052.3:p.Ala358=
• NP_001124438.1:p.Ala359=
• NP_001124438.2:p.Ala358=
• NP_001159725.1:p.Ala405=
• NP_001159725.2:p.Ala404=
• NP_001159726.1:p.Ala291=
• NP_001159726.1:p.Ala291=
• NP_001300957.1:p.Ala339=
• NP_001353466.1:p.Ala297=
• NP_112246.2:p.Ala359=
• NP_112246.3:p.Ala358=
• LRG_579t1:c.1077C>T
• LRG_579t2:c.1077C>T
• LRG_579t3:c.873C>T
• LRG_579t4:c.1215C>T
• LRG_579:g.188792C>T
• LRG_579p1:p.Ala359=
• LRG_579p2:p.Ala359=
• LRG_579p3:p.Ala291=
• LRG_579p4:p.Ala405=
• NC_000007.13:g.139661972C>T
• NM_001130966.2:c.1077C>T
• NM_001166253.1:c.1215C>T
• NM_001166254.1:c.873C>T
• NM_030984.3:c.1077C>T
• NR_029394.1:n.1341C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001061.7:c.1074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130966.5:c.1074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166253.4:c.1212C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166254.4:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001314028.4:c.1017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366537.3:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030984.6:c.1074C>T - synonymous variant - [Sequence Ontology: SO:0001819]