Database of Pathogenic Variants
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Gene Detail
Gene Symbol
GNE
Gene:10020
HGNC:23657
Gene Name
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Chromosome
9
Cytogenetic Band
p13.3
RefSeq Accession
NM_005476
Associated Diseases
Nonaka myopathy
Associated Variants
NM_001128227.2:c.1505-4G>A
NM_001128227.2:c.(51+1_52-1)_(257+1_258-1)del
NM_001128227.2:c.2253delG
NM_001128227.2:c.2228T>C
NM_001128227.2:c.2224A>C
NM_001128227.2:c.2215G>A
NM_001128227.2:c.2098G>A
NM_001128227.2:c.2070C>A
NM_001128227.2:c.1998T>A
NM_001128227.2:c.1985C>T
NM_001128227.2:c.1981G>A
NM_001128227.2:c.1980delA
NM_001128227.2:c.1900C>T
NM_001128227.2:c.1892C>T
NM_001128227.2:c.1864G>A
NM_001128227.2:c.1853T>C
NM_001128227.2:c.1853T>A
NM_001128227.2:c.1829G>A
NM_001128227.2:c.1807G>C
NM_001128227.2:c.1806_1808delTGT
NM_001128227.2:c.1795G>A
NM_001128227.2:c.1768G>A
NM_001128227.2:c.1763T>C
NM_001128227.2:c.1726+1G>T
NM_001128227.2:c.1664C>T
NM_001128227.2:c.1664C>A
NM_001128227.2:c.1634_1637delTAGA
NM_001128227.2:c.1632G>A
NM_001128227.2:c.1508T>C
NM_001128227.2:c.1504+5G>A
NM_001128227.2:c.1498G>A
NM_001128227.2:c.1451G>T
NM_001128227.2:c.1376G>A
NM_001128227.2:c.1374G>C
NM_001128227.2:c.1355T>C
NM_001128227.2:c.1351C>T
NM_001128227.2:c.1241T>A
NM_001128227.2:c.1238C>G
NM_001128227.2:c.1163+5G>T
NM_001128227.2:c.1133T>C
NM_001128227.2:c.1085T>C
NM_001128227.2:c.1076-1delG
NM_001128227.2:c.1054C>T
NM_001128227.2:c.1009C>G
NM_001128227.2:c.986T>C
NM_001128227.2:c.983T>G
NM_001128227.2:c.977G>A
NM_001128227.2:c.971A>G
NM_001128227.2:c.940C>T
NM_001128227.2:c.922C>T
NM_001128227.2:c.902T>A
NM_001128227.2:c.862+4A>G
NM_001128227.2:c.830G>A
NM_001128227.2:c.829C>T
NM_001128227.2:c.791T>C
NM_001128227.2:c.748C>A
NM_001128227.2:c.674delA
NM_001128227.2:c.662T>C
NM_001128227.2:c.648_648dupC
NM_001128227.2:c.627C>G
NM_001128227.2:c.626T>C
NM_001128227.2:c.626T>A
NM_001128227.2:c.622C>T
NM_001128227.2:c.499G>A
NM_001128227.2:c.489C>G
NM_001128227.2:c.479G>A
NM_001128227.2:c.476dupT
NM_001128227.2:c.410T>C
NM_001128227.2:c.395G>A
NM_001128227.2:c.358G>C
NM_001128227.2:c.358G>A
NM_001128227.2:c.268C>T
NM_001128227.2:c.211G>A
NM_001128227.2:c.188_197dup
NM_001128227.2:c.179T>G
NM_001128227.2:c.179T>C
NM_001128227.2:c.177C>G
NM_001128227.2:c.173C>T
NM_001128227.2:c.124C>T
NM_001128227.2:c.115C>T
NM_001128227.2:c.1500A>G
NM_001128227.2:c.188_197dup