Detailed info
Owner: |
tordai-lab |
Position: |
intron 2 |
HAEUID: |
143 |
Nucleotide change |
Protein change |
Traditional: |
638G>A |
Traditional: |
Splicing defect |
HUGO: |
g.1820G>A |
HUGO: |
p.- |
CDS: |
c.51+1G>A |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
ND |
Add note (registered labs only)
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