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TARDBP Leu27 Mutation Details

(Table Legend)

Gene

TARDBP

Name

g.81G>A (relative to Met1 in NG_008734.1)
g.6187G>A (relative to nt1 in NG_008734.1)

Alias

Leu27

Description

Silent point mutation in coding region

Codon Change

From CTG to CTA

Details

Genomic

cDNA

Protein

Observed

g.6187G>A

Predicted

c.81G>A

p.L27

Region

EX2

CDS

N-Term

Phenotype

No Neurodegenerative Phenotype (Not pathogenic)

Function

No Functional data available

Citations

Kirby J, Neurogenetics 11: 217-225, 2010

Citation Details

Added: October 22, 2010

ID: 575



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