Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
4 |
Nucleotide change |
Protein change |
Traditional: |
16838G>A |
Traditional: |
Trp460Stop |
HUGO: |
g.18020G>T |
HUGO: |
p.Trp482Stop |
CDS: |
c.1446G>T |
Effect: |
pathogenic |
Reference: |
Blanch A et al (Hum Mutat 2002 Nov 21(1) 102) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Direct Sequencing exon 8 |
Add note (registered labs only)
|