c.2896C>T

 

c.2896C>T

Mutation Description

This mutation consists of a transition from C to T at c.2896 in exon 20.

Mutation Effect

This mutation is a nonsense mutation, resulting in ARG889TER yielding a predicted 888 residue protein.

Sequence context

GluLysPheArgLysTyr > GluLysPheTer
GAGAAGTTTCGATTATAC > GAGAAGTTTTGATTATAC

Cell Line and Pedigree Information

SUG

Reference(s)

  • Oshima, J., et al., Hum. Mol. Genet. 5:1909-1913, (1996).

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