Detailed info
Owner: |
trascasa-lab |
Position: |
exon 8 |
HAEUID: |
6 |
Nucleotide change |
Protein change |
Traditional: |
16870G>A |
Traditional: |
Gly471Glu |
HUGO: |
g.18052G>A |
HUGO: |
p.Gly493Glu |
CDS: |
c.1478G>A |
Effect: |
pathogenic |
Reference: |
Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Direct sequencing exon 8 Note of tordai-lab (2004-03-07): Also found in one Hungarian family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117) |
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