Detailed info
Owner: |
admin |
Position: |
exon 6 |
HAEUID: |
151 |
Nucleotide change |
Protein change |
Traditional: |
8755A>G |
Traditional: |
Thr286Ala |
HUGO: |
g.9937A>G |
HUGO: |
p.Thr308Ala |
CDS: |
c.922A>G |
Effect: |
pathogenic |
Reference: |
Cumming SA et al (J Med Genet. 2003 Oct;40(10):e114) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Reported as Thr285Ala, in which the amino acid position is incorrect |
Add note (registered labs only)
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