Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
7 |
Nucleotide change |
Protein change |
Traditional: |
16893T>A |
Traditional: |
Stop479Arg |
HUGO: |
g.18075T>A |
HUGO: |
p.Stop501Arg |
CDS: |
c.1501G>A |
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.
The mutated protein
could be as long as 563 aminoacids. |
Add note (registered labs only)
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