Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
8 |
Nucleotide change |
Protein change |
Traditional: |
16707delT |
Traditional: |
Ser417frameshift stop 427 |
HUGO: |
g.17889delT |
HUGO: |
p.Ser439fs |
CDS: |
c.1315delT |
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 |
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