Chromosome | Chr 5 |
---|---|
Position | 94803683 |
Gene name | TTC37 |
RefSeq | NM_014639 |
Reference sequence | G |
Proband: number of reads with reference | 0 |
Proband: alternative | A |
Proband: number of reads with alternative | 43 |
Mother: number of reads with reference | 88 |
Mother: alternative | A |
Mother: number of reads with alternative | 43 |
Father: number of reads with reference | 49 |
Father: alternative | A |
Father: number of reads with alternative | 11 |
Mutation type | Missense |
Mutation: DNA (HGVS nomenclature _c.) | c.4597 C > T |
Mutation: protein (HGVS nomenclature _p.) | R1503C |
Prediction < SIFT | Damaging |
Prediction < PolyPhen-2 | Probably damaging |
Sanger verification | Yes |