Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
105 |
Nucleotide change |
Protein change |
Traditional: |
16789G>T |
Traditional: |
Arg444Leu |
HUGO: |
g.17971G>T |
HUGO: |
p.Arg466Leu |
CDS: |
c.1397G>T |
Effect: |
pathogenic |
Reference: |
Frangi D et al (FEBS Lett. 1992 Apr 13;301(1):34-6.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
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