Detailed info
Owner: |
Wuerzburg |
Position: |
exon 2 |
HAEUID: |
208 |
Nucleotide change |
Protein change |
Traditional: |
587A>G |
Traditional: |
Met-22Val |
HUGO: |
g. |
HUGO: |
p.Met1Val |
CDS: |
c.1A>G |
Effect: |
pathogenic |
Reference: |
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Found in 9 members of 4 families |
Add note (registered labs only)
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