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AQP4 variant information
| Gene | Chromosome | Nucleotide change | Amino acid change (predicted) | Variant type | Predicted effect |
dbSNP | Genotype | ClinVar ID | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | Align GVGD | MutationTaster | PolyPhen-2 (HumVar) | ||||||||
| AQP4 | 18 | c.332C>G | p.(Ser111Thr) | Substitution | Del | Class C55 | Disease-causing | Benign | – | Heterozygous (de novo) | SCV000611625.1 |
Del, deleterious.
