Detailed info
Owner: |
trascasa-lab |
Position: |
exon 7 |
HAEUID: |
170 |
Nucleotide change |
Protein change |
Traditional: |
14227T>C |
Traditional: |
Met387Thr |
HUGO: |
g.15409T>C |
HUGO: |
p.Met409Thr |
CDS: |
c.1226T>C |
Effect: |
pathogenic |
Reference: |
Roche et al. (Human Mutation 2005 26(2), 135-144) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
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