Detailed info
Owner: |
tosi-lab |
Position: |
promoter |
HAEUID: |
12 |
Nucleotide change |
Protein change |
Traditional: |
-40C>G |
Traditional: |
- |
HUGO: |
g.1143C>T |
HUGO: |
p.- |
CDS: |
c.- |
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 mutation in exon 5 |
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