Detailed info
Owner: |
admin |
Position: |
exon 8 |
HAEUID: |
110 |
Nucleotide change |
Protein change |
Traditional: |
16753T>A |
Traditional: |
Val432Glu |
HUGO: |
g.17935T>A |
HUGO: |
p.Val455Glu |
CDS: |
c.1361T>A |
Effect: |
pathogenic |
Reference: |
Davis AE 3rd et al (Nat Genet. 1992 Aug;1(5):354-8.) |
Family history: |
unknown |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
|