Detailed info
Owner: |
tosi-lab |
Position: |
exon 3 |
HAEUID: |
21 |
Nucleotide change |
Protein change |
Traditional: |
2694G>A |
Traditional: |
splicing defect or Gly162Arg |
HUGO: |
g.3876G>A |
HUGO: |
p.Gly184Arg |
CDS: |
c.550G>A |
Effect: |
pathogenic |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
sporadic (negative) |
No. of cases: |
3 |
Notes: |
Method: FAMA followed by sequencing
Recurrent mutation
found de novo |
Add note (registered labs only)
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