Detailed info
Owner: |
tordai-lab |
Position: |
exon 8 |
HAEUID: |
135 |
Nucleotide change |
Protein change |
Traditional: |
16810T>A |
Traditional: |
Val451Glu |
HUGO: |
g.17992T>A |
HUGO: |
p.Val473Glu |
CDS: |
c.1418T>A |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
- Highly conserved amino acid, significant amino acid change with polarity change
- Disease causing mutations already described in this position (Val451Met, Val451Gly)
- De novo mutation
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Add note (registered labs only)
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