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

* If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
c.372del
exon 2
c.372del
p.(Asp125Metfs*12)Likely pathogenicTo be validated
 2019-02-08
C284R
exon 4
c.850T>C
p.(Cys284Arg)Likely pathogenicTo be validated
 2019-01-21
T195I
exon 3
c.584C>T
p.(Thr195Ile)Likely pathogenicTo be validated
 2019-01-21
T276fs
exon 4
c.827del
p.(Thr276Lysfs*2)PathogenicTo be validated
 2019-01-21
C43fs
exon 2
c.128_129del
p.(Cys43Tyrfs*6)PathogenicTo be validated
 2019-01-21
c.3G>A
exon 1
c.3G>A
p.?PathogenicTo be validated
 2019-01-21
R414X
exon 6
c.1240C>T
p.(Arg414*)PathogenicTo be validated
 2019-01-21
I330del
exon 5
c.988_990del
p.(Ile330del)Likely pathogenicTo be validated
 2019-01-21