Detailed info
Owner: |
admin |
Position: |
exon 7 |
HAEUID: |
94 |
Nucleotide change |
Protein change |
Traditional: |
14082C>T |
Traditional: |
Gln339Stop |
HUGO: |
g.15264C>T |
HUGO: |
p.Gln361Stop |
CDS: |
c.1081C>T |
Effect: |
pathogenic |
Reference: |
Ono H et al (Hum Genet. 1996 Oct;98(4):452-3.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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