LACC1 (NM_001128303.2) sequence variants
(FAMIN, C13orf31)

Editor(s): Guilaine BOURSIER   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for LACC1 : 12

*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.3G>A
p.?
c.3G>A
PathogenicTo be validated
 2019-01-212020-04-17
exon 2
c.128_129del
p.(Cys43Tyrfs*6)
C43fs
PathogenicTo be validated
 2019-01-212022-01-24
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
 2019-01-212021-02-23
exon 4
c.760A>G
p.(Ile254Val)
I254V
BenignTo be validated
 2021-12-172022-01-18
exon 4
c.827del
p.(Thr276Lysfs*2)
T276fs
PathogenicTo be validated
 2019-01-212021-02-23
exon 4
c.832G>C
p.(Ala278Pro)
A278P
Likely pathogenicTo be validated
 2021-02-12 
exon 4
c.850T>C
p.(Cys284Arg)
C284R
Likely pathogenicTo be validated
 2019-01-212021-02-12
exon 5
c.988_990del
p.(Ile330del)
I330del
Likely pathogenicTo be validated
 2019-01-212019-01-21
exon 5
c.1042G>T
p.(Glu348*)
p.Glu348Ter
PathogenicTo be validated
 2021-02-12 
exon 5
c.1109G>A
p.(Cys370Tyr)
C370Y
Uncertain significance (VUS)To be validated
 2021-12-172022-01-18
exon 6
c.1240C>T
p.(Arg414*)
R414X
PathogenicTo be validated
 2019-01-212021-02-23