SAMD9L (NM_152703.5) sequence variants
(KIAA2005, FLJ39885)

Editor(s): Adriana ALMEIDA DE JESUS   

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Total current number of sequence variants for SAMD9L : 4

*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 5
c.2626delA
p.(Ile876Leufs*15)
I876Lfs*15
Likely pathogenicTo be validated
 2020-02-17
exon 5
c.2633delA
p.(Lys878Serfs*13)
K878Sfs*13
Likely pathogenicTo be validated
 2020-02-17
exon 5
c.2658_2659delTT
p.(Phe886Leufs*11)
F886Lfs*11
Likely pathogenicTo be validated
 2020-02-17
exon 5
c.2666delT
p.(Phe889Serfs*2)
F889Sfs*2
Likely pathogenicTo be validated
 2020-02-17