Detailed info
Owner: |
Wuerzburg |
Position: |
exon 8 |
HAEUID: |
288 |
Nucleotide change |
Protein change |
Traditional: |
16772C>T |
Traditional: |
Ser438Ser |
HUGO: |
g. |
HUGO: |
p.Ser460Ser |
CDS: |
c.1380C>T |
Effect: |
polymorphism |
Reference: |
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
carried by an unaffected father |
Add note (registered labs only)
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