Detailed info
Owner: |
admin |
Position: |
exon 3 |
HAEUID: |
152 |
Nucleotide change |
Protein change |
Traditional: |
2458_2461delCAAC |
Traditional: |
Frameshift |
HUGO: |
g.3640_3643del |
HUGO: |
p.Pro105fs |
CDS: |
c.314_317del |
Effect: |
pathogenic |
Reference: |
Cumming SA et al (J Med Genet. 2003 Oct;40(10):e114) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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