Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
118 |
Nucleotide change |
Protein change |
Traditional: |
16842C>T |
Traditional: |
Gln462Stop |
HUGO: |
g.18024C>T |
HUGO: |
p.Gln484Stop |
CDS: |
c.1450C>T |
Effect: |
pathogenic |
Reference: |
Siddique Z et al (Hum Hered. 1992;42(4):231-4.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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