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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:
GABRG2
& Disease:
LGS
, 15 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
205540
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_198904.4
M
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_000816.3
SNV
P
2
+
4
GABRG2
c.397C>T
p.Arg133Ter (p.R133X)
NM_001375339.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_001375340.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_001375341.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_001375342.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_001375343.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_001375344.1
SNV
P
2
+
4
GABRG2
c.340C>T
p.Arg114Ter (p.R114X)
NM_001375345.1
SNV
P
2
+
4
GABRG2
c.340C>T
p.Arg114Ter (p.R114X)
NM_001375346.1
SNV
P
2
+
4
GABRG2
c.319C>T
p.Arg107Ter (p.R107X)
NM_001375347.1
SNV
P
2
+
4
GABRG2
c.-15C>T
--
NM_001375348.1
SNV
P
2
+
4
GABRG2
c.121C>T
p.Arg41Ter (p.R41X)
NM_001375349.1
SNV
P
2
+
4
GABRG2
c.-15C>T
--
NM_001375350.1
SNV
P
2
+
4
GABRG2
c.406C>T
p.Arg136Ter (p.R136X)
NM_198903.2
SNV
P
2
+
4
15 Results, 20 per Page
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