F12 (NM_000505.4) sequence variants
(HAF, HAE3, HAEX)

Editor(s): Karoline KRAUSE   

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ADA2ADAM17ALPK1AP1M2AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2PLD4POMPPSMA3PSMA5PSMA6PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TBXAS1TLR7TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1UNC93B1WDR1

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Total current number of sequence variants for F12 : 1

Last update (2026/06/22):
The genomic reference sequence has been updated from GRCh37 to GRCh38.

*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 9
c.859T>A
p.(Trp287Arg)
W268R
PathogenicTo be validated
 2020-04-302022-01-18