c.2473C>T

 

c.2896C>T

Mutation Description

This mutation consists of a transition from C to T at c.2473 in exon 19.

Mutation Effect

This mutation is a nonsense mutation, resulting in GLN748TER yielding a predicted 747 residue protein.

Sequence context

AsnIleLeuGlnAspLeuGln > AsnIleLeuTerAATATCCTTCAGGATCTGCAG > AATATCCTTTAGGATCTGCAG

Cell Line and Pedigree Information

AG03141

Reference(s)

  • Oshima, J., et al., Manuscript in preparation.

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