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

Editor(s): Adriana ALMEIDA DE JESUS   

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 SAMD9L : 13

*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.2640C>A
p.(His880Gln)
H880Q
Not classifiedTo be validated
 2021-08-26
exon 5
c.2672T>C
p.(Ile891Thr)
I891T
Likely pathogenicTo be validated
 2021-08-26
exon 5
c.2654del
p.(Asn885Thrfs*6)
N885Tfs*6
Likely pathogenicTo be validated
 2021-08-26
exon 5
c.3842G>A
p.(Arg1281Lys)
R1281K
Not classifiedTo be validated
 2021-08-26
exon 5
c.2956C>T
p.(Arg986Cys)
R986C
Likely pathogenicTo be validated
 2021-08-26
exon 5
c.2957G>A
p.(Arg986His)
R986H
Not classifiedTo be validated
 2021-08-26
exon 5
c.4418G>A
p.(Ser1473Asn)
S1473N
Not classifiedTo be validated
 2021-08-26
exon 5
c.4535T>C
p.(Val1512Ala)
V1512A
Not classifiedTo be validated
 2021-08-26
exon 5
c.4534G>A
p.(Val1512Met)
V1512M
Not classifiedTo be validated
 2021-08-26
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
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