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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:
ATP7B
& Disease:
SPAX
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
189112
ATP7B
c.1745_1746delTA
--
NM_000053.4
M
Del
P
2
+
11
ATP7B
c.1745_1746del
p.Ile582fs (p.I582fs)
NM_000053.4
M
Del
P
2
+
11
ATP7B
c.1745_1746del
p.Ile582fs (p.I582fs)
NM_001005918.3
Del
P
2
+
11
ATP7B
c.1412_1413del
p.Ile471fs (p.I471fs)
NM_001243182.2
Del
P
2
+
11
ATP7B
c.1745_1746del
p.Ile582fs (p.I582fs)
NM_001330578.2
Del
P
2
+
11
ATP7B
c.1745_1746del
p.Ile582fs (p.I582fs)
NM_001330579.2
Del
P
2
+
11
6 Results, 20 per Page
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