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

* If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
Phe114Leufs*18
exon 5
c.342_348delinsACC
p.Phe114Leufs*18PathogenicTo be validated
 2019-06-05
Ile112Trpfs*3
exon 5
c.334_335delAT
p.Ile112Trpfs*3PathogenicTo be validated
 2019-06-05
c.-95delC
5UT
c.-95delC
-PathogenicTo be validated
 2019-06-05