Detailed info
Owner: |
sevilla_lab |
Position: |
exon 8 |
HAEUID: |
201 |
Nucleotide change |
Protein change |
Traditional: |
16788delC |
Traditional: |
Frameshift |
HUGO: |
g.17970delC |
HUGO: |
p.Arg466fs |
CDS: |
c.1396delC |
Effect: |
pathogenic |
Reference: |
Unpublished sequence variation |
Family history: |
sporadic (negative) |
No. of cases: |
1 |
Notes: |
ND |
Add note (registered labs only)
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