LACC1 (NM_001128303.1) sequence variants
(FAMIN, C13orf31)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for LACC1 : 8

*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.3G>A
p.?
c.3G>A
PathogenicTo be validated
 2019-01-21
exon 2
c.128_129del
p.(Cys43Tyrfs*6)
C43fs
PathogenicTo be validated
 2019-01-21
exon 2
c.372del
p.(Asp125Metfs*12)
c.372del
Likely pathogenicTo be validated
 2019-02-08
exon 3
c.584C>T
p.(Thr195Ile)
T195I
Likely pathogenicTo be validated
 2019-01-21
exon 4
c.827del
p.(Thr276Lysfs*2)
T276fs
PathogenicTo be validated
 2019-01-21
exon 4
c.850T>C
p.(Cys284Arg)
C284R
Likely pathogenicTo be validated
 2019-01-21
exon 5
c.988_990del
p.(Ile330del)
I330del
Likely pathogenicTo be validated
 2019-01-21
exon 6
c.1240C>T
p.(Arg414*)
R414X
PathogenicTo be validated
 2019-01-21