Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
Log In
|
Sign Up
EN
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Mutation Direct
Effortless mutation search and display tool
Search
Search criteria:
Gene:
TUBA1A
& Disease:
Cerebral Palsy
, 6 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
265378
TUBA1A
c.367C>T
p.Arg123Cys (p.R123C)
NM_006009.4
M
SNV
P
3
+
4
TUBA1A
c.367C>T
p.Arg123Cys (p.R123C)
NM_001270399.2
SNV
P
3
+
4
TUBA1A
c.262C>T
p.Arg88Cys (p.R88C)
NM_001270400.2
SNV
P
3
+
4
1172808
TUBA1A
c.50G>A
p.Gly17Asp (p.G17D)
NM_006009.4
M
SNV
P
1
+
1
TUBA1A
c.50G>A
p.Gly17Asp (p.G17D)
NM_001270399.2
SNV
P
1
+
1
TUBA1A
c.-56G>A
--
NM_001270400.2
SNV
P
1
+
1
6 Results, 20 per Page
1
Wechat
Comparison
Al agent
Tutorials
Back to top