POMP (NM_015932.5) sequence variants
(UMP1, PRAAS2, HSPC014, C13orf12, PNAS-110)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for POMP : 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
5UT
c.-95delC
-
c.-95delC
PathogenicTo be validated
 2019-06-05
exon 5
c.334_335delAT
p.Ile112Trpfs*3
Ile112Trpfs*3
PathogenicTo be validated
 2019-06-05
exon 5
c.342_348delinsACC
p.Phe114Leufs*18
Phe114Leufs*18
PathogenicTo be validated
 2019-06-05