Detailed info
Owner: |
tosi-lab |
Position: |
exon 3 |
HAEUID: |
19 |
Nucleotide change |
Protein change |
Traditional: |
2656C>T |
Traditional: |
Pro149Leu |
HUGO: |
g.3838C>T |
HUGO: |
p.Pro171Leu |
CDS: |
c.512C>T |
Effect: |
pathogenic |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
Affects highly conserved amino acid |
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