Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
149 |
Nucleotide change |
Protein change |
Traditional: |
16698delC |
Traditional: |
Frameshift |
HUGO: |
g.17880del |
HUGO: |
p.Leu436fs |
CDS: |
c.1306del |
Effect: |
pathogenic |
Reference: |
Siddique Z et al. (Hum Hered. 1992;42(4):231-4.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
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