Detailed info
Owner: |
trascasa-lab |
Position: |
exon 3 |
HAEUID: |
173 |
Nucleotide change |
Protein change |
Traditional: |
2694G>C |
Traditional: |
Gly162Arg or splicing |
HUGO: |
g.3876G>C |
HUGO: |
p.Gly184Arg or splicing |
CDS: |
c.550G>C |
Effect: |
pathogenic |
Reference: |
Roche O et al. (Human Mutation 2005 26(2), 135-144) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
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