DNA change | Protein change | Exon/intron | Type | Reported classification | Bateman | SIFT | PolyPhen | Conserved | Protein domain | Remarks | LOVD ID |
c.2302G>A | p.Val768Ile | Exon 18 | Missense | Likely non disease-causing | Key residue | Tolerated | Benign | Moderately |
Fn 2
| Mutation was also found in two unaffected males in the family (34yrs and 5 yrs) |
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