ClinVar

NM_001061.7(TBXAS1):c.933G>A (p.Pro311=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 139962032 (on Assembly GRCh38)
• Chr7: 139661831 (on Assembly GRCh37)

Preferred name:

NM_001061.7(TBXAS1):c.933G>A (p.Pro311=)

HGVS:

• NC_000007.14:g.139962032G>A
• NG_008422.2:g.188651G>A
• NM_001061.7:c.933G>AMANE SELECT
• NM_001130966.5:c.933G>A
• NM_001166253.4:c.1071G>A
• NM_001166254.4:c.732G>A
• NM_001314028.4:c.876G>A
• NM_001366537.3:c.750G>A
• NM_030984.6:c.933G>A
• NP_001052.3:p.Pro311=
• NP_001124438.1:p.Pro312=
• NP_001124438.2:p.Pro311=
• NP_001159725.1:p.Pro358=
• NP_001159725.2:p.Pro357=
• NP_001159726.1:p.Pro244=
• NP_001159726.1:p.Pro244=
• NP_001300957.1:p.Pro292=
• NP_001353466.1:p.Pro250=
• NP_112246.2:p.Pro312=
• NP_112246.3:p.Pro311=
• LRG_579t1:c.936G>A
• LRG_579t2:c.936G>A
• LRG_579t3:c.732G>A
• LRG_579t4:c.1074G>A
• LRG_579:g.188651G>A
• LRG_579p1:p.Pro312=
• LRG_579p2:p.Pro312=
• LRG_579p3:p.Pro244=
• LRG_579p4:p.Pro358=
• NC_000007.13:g.139661831G>A
• NM_001130966.2:c.936G>A
• NM_001166253.1:c.1074G>A
• NM_001166254.1:c.732G>A
• NM_030984.3:c.936G>A
• NR_029394.1:n.1200G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001061.7:c.933G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130966.5:c.933G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166253.4:c.1071G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166254.4:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001314028.4:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366537.3:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_030984.6:c.933G>A - synonymous variant - [Sequence Ontology: SO:0001819]