Detailed info
Owner: |
Rijavec-Golnik |
Position: |
exon 3 |
HAEUID: |
321 |
Nucleotide change |
Protein change |
Traditional: |
2212_2213delAT |
Traditional: |
Frameshift |
HUGO: |
g.3394_3395delAT |
HUGO: |
p.Asn25fs |
CDS: |
c.74_75delAT |
Effect: |
pathogenic |
Reference: |
Karadza-Lapic et al. (Annals of Medicine 2016) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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