POMP (NM_015932.6) sequence variants
(UMP1, PRAAS2, HSPC014, C13orf12, PNAS-110)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for POMP : 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.334_335delAT
p.(Ile112Trpfs*3)
Ile112Trpfs*3
PathogenicTo be validated
 2019-06-052021-01-22
exon 5
c.342_348delinsACC
p.(Phe114Leufs*18)
Phe114Leufs*18
PathogenicTo be validated
 2019-06-052021-01-22
5 flanking
c.-95delC
p.?
c.-95delC
PathogenicTo be validated
 2019-06-052020-05-25
exon 5
c.333del
p.(Ile112Leufs*21)
p.t111fs
Likely pathogenicTo be validated
 2024-03-03