TBXAS1 (NM_001061.7) sequence variants
(TS, TXS, CYP5, THAS, TXAS, CYP5A1, GHOSAL, BDPLT14)

Editor(s): Qing ZHOU   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1M2AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2PLD4POMPPSMA3PSMA5PSMA6PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TBXAS1TLR7TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1UNC93B1WDR1

🔎

Total current number of sequence variants for TBXAS1 : 7

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.176dup
p.Arg60Profs*33
R60Pfs*33
PathogenicTo be validated
 2025-12-182025-12-22
exon 3
c.210del
p.Arg71Glufs*25
R71Efs*25
PathogenicTo be validated
 2025-12-18 
exon 3
c.228del
p.Leu77Cysfs*19
p.L77Cfs*19
PathogenicTo be validated
 2025-12-18 
intron 3
c.236+5G>C
p.?
IVS3+5G>C
Likely pathogenicTo be validated
 2026-06-072026-06-08
intron 8
c.819+1G>A
p.?
IVS8+1G>A
Likely pathogenicTo be validated
 2026-06-072026-06-08
exon 11
c.1343C>T
p.Pro448Leu
P448L
Likely pathogenicTo be validated
 2026-06-07 
exon 12
c.1417G>T
p.Gly473Trp
G473W
Likely pathogenicTo be validated
 2026-06-07