Detailed info
Owner: |
admin |
Position: |
exon 3 |
HAEUID: |
70 |
Nucleotide change |
Protein change |
Traditional: |
2353C>G |
Traditional: |
Ser48Stop |
HUGO: |
g.3535C>G |
HUGO: |
p.Ser70Stop |
CDS: |
c.209C>G |
Effect: |
pathogenic |
Reference: |
Freiberger T et al (Hum Mutat. 2002 Apr;19(4):461.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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