omia.variant:699

Genomic description: g.18332036_18332037ins[A[29];GGAAGCAACAGGATG]

Coding DNA description: c.142_143ins[A[29];GGAAGCAACAGGATG]

Protein description: p.(I49Kfs*26)

Gene: RPGRIP1

Phenes where this variant occurs: