Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
43 |
Nucleotide change |
Protein change |
Traditional: |
16872C>T |
Traditional: |
Arg472Stop |
HUGO: |
g.18054C>T |
HUGO: |
p.Arg492Stop |
CDS: |
c.1480C>T |
Effect: |
pathogenic |
Reference: |
Verpy et al., 1995; 95:350-359 |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
Method: Chemical cleavage of mismatch followed by sequencing. Not secreted. Also found as a likely de novo mutation Note of tordai-lab (2004-03-07): Also found in one Hungarian family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117) |
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