DNA change | Protein change | Exon/intron | Type | Reported classification | Bateman | SIFT | PolyPhen | Conserved | Protein domain | Remarks | LOVD ID |
c.1574G>A | p.Arg525His | Exon 13 | Missense | Unknown | Surface site | Tolerated | Benign | Low |
Ig 6
| Mutation detected in 2 affected females and 1 affected male |
|