Detailed info
Owner: |
tosi-lab |
Position: |
exon 7 |
HAEUID: |
33 |
Nucleotide change |
Protein change |
Traditional: |
14029AGGT>GCA |
Traditional: |
splicing defect |
HUGO: |
g.15211AGGT>GCA |
HUGO: |
p.- |
CDS: |
c.1030-2AGGT>GCA |
Effect: |
pathogenic |
Reference: |
Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
De novo mutation |
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