ELF4 (NM_001421.4) sequence variants
(MEF, ELFR)

Editor(s): Carrie LUCAS   

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Total current number of sequence variants for ELF4 : 11

*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
intron 1
c.(-210+1_-209-1)_(809+1_810-1)del
p.0
Deletion_exons_2-7
PathogenicTo be validated
 2024-01-222024-03-12
exon 5
c.443del
p.(Gly148Valfs*113)
p.(G148Vfs*113)
PathogenicTo be validated
 2024-01-222024-03-05
exon 5
c.465del
p.(His156Ilefs*105)
p.(H156Ifs*105)
PathogenicTo be validated
 2024-01-222024-03-05
exon 3
c.115C>T
p.(Gln39*)
p.(Q39X)
PathogenicTo be validated
 2024-01-222024-03-05
exon 6
c.553C>T
p.(Arg185*)
p.(R185X)
PathogenicTo be validated
 2024-01-222024-03-05
exon 7
c.700C>T
p.(Arg234*)
p.(R234X)
PathogenicTo be validated
 2024-01-222024-03-05
exon 7
c.743C>T
p.(Ser248Phe)
p.(S248F)
PathogenicTo be validated
 2024-01-222024-03-05
exon 7
c.636G>T
p.(Trp212Cys)
p.(W212C)
PathogenicTo be validated
 2024-01-222024-03-05
exon 8
c.1015delG
p.(Ala339Profs*32)
p.A339fs
PathogenicTo be validated
 2022-03-282022-03-30
exon 7
c.691T>C
p.(Trp231Arg)
p.W231R
PathogenicTo be validated
 2022-03-282022-06-13
exon 7
c.752G>C
p.(Trp251Ser)
p.W251S
PathogenicTo be validated
 2022-03-282022-03-30