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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:
NFIX
& Disease:
Laryngomalacia
, 10 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
627622
NFIX
c.440G>A
p.Gly147Glu (p.G147E)
NM_001365902.3
M
SNV
LP
3
+
1
NFIX
c.464G>A
p.Gly155Glu (p.G155E)
NM_001271043.2
SNV
LP
3
+
1
NFIX
c.416G>A
p.Gly139Glu (p.G139E)
NM_001271044.3
SNV
LP
3
+
1
NFIX
c.440G>A
p.Gly147Glu (p.G147E)
NM_001365982.2
SNV
LP
3
+
1
NFIX
c.299G>A
p.Gly100Glu (p.G100E)
NM_001365983.2
SNV
LP
3
+
1
NFIX
c.437G>A
p.Gly146Glu (p.G146E)
NM_001365984.2
SNV
LP
3
+
1
NFIX
c.437G>A
p.Gly146Glu (p.G146E)
NM_001365985.2
SNV
LP
3
+
1
NFIX
c.416G>A
p.Gly139Glu (p.G139E)
NM_001378404.1
SNV
LP
3
+
1
NFIX
c.488G>A
p.Gly163Glu (p.G163E)
NM_001378405.1
SNV
LP
3
+
1
NFIX
c.440G>A
p.Gly147Glu (p.G147E)
NM_002501.4
SNV
LP
3
+
1
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