COPA (NM_004371.4) sequence variants
(AILJK, HEP-COP, alpha-COP)

Editor(s): Marie-louise FRÉMOND   

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Total current number of sequence variants for COPA : 14

*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 8
c.690G>T
p.(Lys230Asn)
p.K230N
PathogenicTo be validated
 2022-03-162022-03-16
exon 8
c.698G>A
p.(Arg233His)
p.R233H
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.712A>G
p.(Lys238Glu)
p.K238E
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.715G>C
p.(Ala239Pro)
p.A239P
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.718T>C
p.(Trp240Arg)
p.W240R
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.719G>T
p.(Trp240Leu)
p.W240L
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.719G>C
p.(Trp240Ser)
p.W240S
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.721G>A
p.(Glu241Lys)
p.E241K
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.722A>C
p.(Glu241Ala)
p.E241A
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.725T>G
p.(Val242Gly)
p.V242G
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.727G>A
p.(Asp243Asn)
p.D243N
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.728A>G
p.(Asp243Gly)
p.D243G
PathogenicTo be validated
 2022-03-162022-03-19
exon 9
c.841C>T
p.(Arg281Trp)
p.R281W
Likely pathogenicTo be validated
 2022-03-162022-03-19
exon 10
c.855G>C
p.(Gln285His)
p.Q285H
PathogenicTo be validated
 2022-03-162022-03-19