omia.variant:404 - OMIA - Online Mendelian Inheritance in Animals

omia.variant:404

Genomic description: g.63668380C>T

Coding DNA description: c.2076G>A

Protein description: p.(E692E)

Gene: UBE3B

Phenes where this variant occurs:

OMIA:001934-9913: Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) in Bos taurus (taurine cattle)

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