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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
MRPS22
& Disease:
ODG7
, 11 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
4753
MRPS22
c.509G>A
p.Arg170His (p.R170H)
NM_020191.4
M
SNV
P
2
+
3
MRPS22
c.386G>A
p.Arg129His (p.R129H)
NM_001363857.1
SNV
P
2
+
3
MRPS22
c.506G>A
p.Arg169His (p.R169H)
NM_001363893.1
SNV
P
2
+
3
441255
MRPS22
c.605G>A
p.Arg202His (p.R202H)
NM_020191.4
M
SNV
P
2
+
1
496583
MRPS22
c.404G>A
p.Arg135Gln (p.R135Q)
NM_020191.4
M
SNV
P
2
+
1
441255
MRPS22
c.482G>A
p.Arg161His (p.R161H)
NM_001363857.1
SNV
P
2
+
1
MRPS22
c.602G>A
p.Arg201His (p.R201H)
NM_001363893.1
SNV
P
2
+
1
496583
MRPS22
c.281G>A
p.Arg94Gln (p.R94Q)
NM_001363857.1
SNV
P
2
+
1
MRPS22
c.401G>A
p.Arg134Gln (p.R134Q)
NM_001363893.1
SNV
P
2
+
1
1029742
MRPS22
c.16A>G
p.Thr6Ala (p.T6A)
NM_020191.4
M
SNV
VUS
1
+
0
MRPS22
c.16A>G
p.Thr6Ala (p.T6A)
NM_001363893.1
SNV
VUS
1
+
0
11 Results, 20 per Page
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