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

Editor(s): Carrie LUCAS   

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Total current number of sequence variants for ELF4 : 3

*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 7
c.691T>C
p.(Trp231Arg)
p.W231R
PathogenicTo be validated
 2022-03-282022-06-13
exon 8
c.1015delG
p.(Ala339Profs*32)
p.A339fs
PathogenicTo be validated
 2022-03-282022-03-30
exon 7
c.752G>C
p.(Trp251Ser)
p.W251S
PathogenicTo be validated
 2022-03-282022-03-30