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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 1c.3G>Ap.?PathogenicTo be validated
 2019-01-21
exon 2c.128_129delp.(Cys43Tyrfs*6)PathogenicTo be validated
 2019-01-21
exon 2c.372delp.(Asp125Metfs*12)Likely pathogenicTo be validated
 2019-02-08
exon 3c.584C>Tp.(Thr195Ile)Likely pathogenicTo be validated
 2019-01-21
exon 4c.827delp.(Thr276Lysfs*2)PathogenicTo be validated
 2019-01-21
exon 4c.850T>Cp.(Cys284Arg)Likely pathogenicTo be validated
 2019-01-21
exon 5c.988_990delp.(Ile330del)Likely pathogenicTo be validated
 2019-01-21
exon 6c.1240C>Tp.(Arg414*)PathogenicTo be validated
 2019-01-21