Detailed info
Owner: |
tordai-lab |
Position: |
exon 3 |
HAEUID: |
140 |
Nucleotide change |
Protein change |
Traditional: |
2579_2620del42 |
Traditional: |
deletion of amino acid |
HUGO: |
g.3761_3802del |
HUGO: |
p.Leu146_Ala159del |
CDS: |
c.435_476del |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
- In frame deletion but a significant part of helix A is lost.
- Disease-linked segregation in the family.
|
Add note (registered labs only)
|