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

Editor(s): Qing ZHOU   

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ADA2ADAM17ALPK1AP1M2AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2PLD4POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TBXAS1TLR7TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1UNC93B1WDR1

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Total current number of sequence variants for TBXAS1 : 3

*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