NLRP1 (NM_033004.3) sequence variants
(CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1", VAMAS1)

Editor(s): Guillaume SARRABAY   

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Total current number of sequence variants for NLRP1 : 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 1
c.230T>C
p.(Met77Thr)
M77T
Not classifiedTo be validated
 2018-10-01
exon 4
c.2176C>T
p.(Arg726Trp)
R726W
Not classifiedTo be validated
 2018-10-01
exon 13
c.3641C>G
p.(Pro1214Arg)
P1214R
Not classifiedTo be validated
 2018-10-01