ClinVar

NM_001061.7(TBXAS1):c.932C>T (p.Pro311Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 139962031 (on Assembly GRCh38)
• Chr7: 139661830 (on Assembly GRCh37)

Preferred name:

NM_001061.7(TBXAS1):c.932C>T (p.Pro311Leu)

HGVS:

• NC_000007.14:g.139962031C>T
• NG_008422.2:g.188650C>T
• NM_001061.4:c.935C>T
• NM_001061.7:c.932C>TMANE SELECT
• NM_001130966.5:c.932C>T
• NM_001166253.4:c.1070C>T
• NM_001166254.4:c.731C>T
• NM_001314028.4:c.875C>T
• NM_001366537.3:c.749C>T
• NM_030984.6:c.932C>T
• NP_001052.3:p.Pro311Leu
• NP_001124438.1:p.Pro312Leu
• NP_001124438.2:p.Pro311Leu
• NP_001159725.1:p.Pro358Leu
• NP_001159725.2:p.Pro357Leu
• NP_001159726.1:p.Pro244Leu
• NP_001159726.1:p.Pro244Leu
• NP_001300957.1:p.Pro292Leu
• NP_001353466.1:p.Pro250Leu
• NP_112246.2:p.Pro312Leu
• NP_112246.3:p.Pro311Leu
• LRG_579t1:c.935C>T
• LRG_579t2:c.935C>T
• LRG_579t3:c.731C>T
• LRG_579t4:c.1073C>T
• LRG_579:g.188650C>T
• LRG_579p1:p.Pro312Leu
• LRG_579p2:p.Pro312Leu
• LRG_579p3:p.Pro244Leu
• LRG_579p4:p.Pro358Leu
• NC_000007.13:g.139661830C>T
• NM_001130966.2:c.935C>T
• NM_001166253.1:c.1073C>T
• NM_001166254.1:c.731C>T
• NM_030984.3:c.935C>T
• NR_029394.1:n.1199C>T

This HGVS expression did not pass validation

Protein change:

P244L

Molecular consequence:

• NM_001061.7:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130966.5:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166253.4:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166254.4:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001314028.4:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366537.3:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_030984.6:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]