U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBXAS1
(A175fs +4 more)
Deletion
(frameshift variant)
Thromboxane synthetase deficiency
+1 more
GLikely pathogenic
TBXAS1
(G406W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity