Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
2 |
Nucleotide change |
Protein change |
Traditional: |
16789G>C |
Traditional: |
Arg444Pro |
HUGO: |
g.17971G>C |
HUGO: |
p.Arg466Pro |
CDS: |
c.1397G>C |
Effect: |
pathogenic |
Reference: |
Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Direct Sequencing
Exon 8 |
Add note (registered labs only)
|