Mutations

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ToggleEditMutation = 'c.1929G>A'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1929	c.1929G>A	p.Trp643*	Nonsense	Exon 16	1	1

1 - 1 of 1

c.1929G>A, p.Trp643*

The sequence variant c.1929G>A in exon 16 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Trp643X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 16

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1929G>A / p.Trp643*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
121	***	Jamaica	***	Type 2	c.685C>T	p.Arg229Trp	c.1929G>A	p.Trp643*	Yes	***

1-1

Primary Mutation Type Distribution