Detailed info
Owner: |
tordai-lab |
Position: |
exon 8 |
HAEUID: |
142 |
Nucleotide change |
Protein change |
Traditional: |
16749_16775dup |
Traditional: |
Frameshift |
HUGO: |
g.17931_17957dup |
HUGO: |
p.Ile462fs |
CDS: |
c.1339_1365dup |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
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