Detailed info
Owner: |
tosi-lab |
Position: |
exon 3 |
HAEUID: |
18 |
Nucleotide change |
Protein change |
Traditional: |
2650T>C |
Traditional: |
Phe147Ser |
HUGO: |
g.3472T>C |
HUGO: |
p.Phe169Ser |
CDS: |
c.146T>C |
Effect: |
pathogenic |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
Method: FAMA followed by sequencing
Affects conserved residue |
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