Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
108 |
Nucleotide change |
Protein change |
Traditional: |
16749_16750insTGT |
Traditional: |
other |
HUGO: |
g.17931_17932insTGT |
HUGO: |
p.Thr450_Glu451insCys |
CDS: |
c.1357_1358insTGT |
Effect: |
pathogenic |
Reference: |
Siddique Z et al (Hum Genet. 1993 Sep;92(2):189-90.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
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