Detailed info
Owner: |
tordai-lab |
Position: |
exon 7 |
HAEUID: |
134 |
Nucleotide change |
Protein change |
Traditional: |
14224A>T |
Traditional: |
Asp386Val |
HUGO: |
g.16106A>T |
HUGO: |
p.Asp408Val |
CDS: |
c.1223A>T |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
- Not detected among 100 control chromosomes.
- Disease-linked segregation in the family.
- Significant amino acid change with polarity and charge change
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Add note (registered labs only)
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