Detailed info
Owner: |
tosi-lab |
Position: |
exon 1 |
HAEUID: |
15 |
Nucleotide change |
Protein change |
Traditional: |
566T>C |
Traditional: |
variant in 5' untranslated region |
HUGO: |
g.1748T>C |
HUGO: |
p.- |
CDS: |
c.-21G>A |
Effect: |
unknown |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
Found associated with missense mutation in exon 3 |
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