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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:
HFE
& Disease:
Peripheral Nervous System Disease
, 13 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
9
HFE
c.845G>A
p.Cys282Tyr (p.C282Y)
NM_000410.4
M
SNV
P
12
+
81
HFE
c.845G>A
p.Cys282Tyr (p.C282Y)
NM_001300749.3
SNV
P
12
+
81
HFE
c.845G>A
p.Cys282Tyr (p.C282Y)
NM_001384164.1
SNV
P
12
+
81
HFE
c.836G>A
p.Cys279Tyr (p.C279Y)
NM_001406751.1
SNV
P
12
+
81
HFE
c.581G>A
p.Cys194Tyr (p.C194Y)
NM_001406752.1
SNV
P
12
+
81
HFE
c.527G>A
p.Cys176Tyr (p.C176Y)
NM_139003.3
SNV
P
12
+
81
HFE
c.569G>A
p.Cys190Tyr (p.C190Y)
NM_139004.3
SNV
P
12
+
81
HFE
c.803G>A
p.Cys268Tyr (p.C268Y)
NM_139006.3
SNV
P
12
+
81
HFE
c.581G>A
p.Cys194Tyr (p.C194Y)
NM_139007.3
SNV
P
12
+
81
HFE
c.539G>A
p.Cys180Tyr (p.C180Y)
NM_139008.3
SNV
P
12
+
81
HFE
c.776G>A
p.Cys259Tyr (p.C259Y)
NM_139009.3
SNV
P
12
+
81
HFE
c.305G>A
p.Cys102Tyr (p.C102Y)
NM_139010.3
SNV
P
12
+
81
HFE
c.77-206G>A
--
NM_139011.3
SNV
P
12
+
81
13 Results, 20 per Page
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