Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
113 |
Nucleotide change |
Protein change |
Traditional: |
16752_16785del34bp |
Traditional: |
Frameshift |
HUGO: |
g.17934_17977del |
HUGO: |
p.Gly453fs |
CDS: |
c.1360_1393del |
Effect: |
pathogenic |
Reference: |
Bissler JJ et al (Hum Genet. 1994 Mar;93(3):265-9.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
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