Mutations

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ToggleEditMutation = 'c.2278C>T'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2278	c.2278C>T	p.Arg760*	Nonsense	Exon 19

1 - 1 of 1

c.2278C>T, p.Arg760*

The sequence variant c.2278C>T in exon 19 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Arg760*).

Mutation Details

Mutation type

Nonsense

Localization

Exon 19

Number of Patients

References

Gotoda et al. 1998

Primary Mutation Type Distribution