Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
103 |
Nucleotide change |
Protein change |
Traditional: |
16788C>A |
Traditional: |
Arg444Ser |
HUGO: |
g.17970C>A |
HUGO: |
p.Arg466Ser |
CDS: |
c.1396C>A |
Effect: |
pathogenic |
Reference: |
Aulak KS et al (FEBS Lett. 1990 Jun 18;266(1-2):13-6.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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