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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:
TEX11
& Disease:
SPGFX2
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
192379
TEX11
c.466A>G
p.Met156Val (p.M156V)
NM_031276.3
M
SNV
P
1
+
1
192380
TEX11
c.2047G>A
p.Ala683Thr (p.A683T)
NM_031276.3
M
SNV
P
1
+
1
192381
TEX11
c.405C>T
p.Ala135= (p.A135=)
NM_031276.3
M
SNV
P
1
+
1
192379
TEX11
c.511A>G
p.Met171Val (p.M171V)
NM_001003811.2
SNV
P
1
+
1
192380
TEX11
c.2092G>A
p.Ala698Thr (p.A698T)
NM_001003811.2
SNV
P
1
+
1
192381
TEX11
c.450C>T
p.Ala150= (p.A150=)
NM_001003811.2
SNV
P
1
+
1
6 Results, 20 per Page
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