Detailed info
Owner: |
tosi-lab |
Position: |
exon 4 |
HAEUID: |
23 |
Nucleotide change |
Protein change |
Traditional: |
4372insA |
Traditional: |
frameshift |
HUGO: |
g.5554_5555insA |
HUGO: |
p.Thr191fs |
CDS: |
c.571_572insA |
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
Could be de novo mutation |
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