Mutations

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ToggleEditMutation = 'c.2921_2922delCA'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2921	c.2921_2922delCA	p.Thr974Argfs*80	Deletion	Exon 23	1	2

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c.2921_2922delCA, p.Thr974Argfs*80

The sequence variant c.2921_2922delCA in exon 23 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Thr974ArgfsX80).

Mutation Details

Mutation type

Deletion

Localization

Exon 23

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2921_2922delCA / p.Thr974Argfs*80

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
192	***	Italy	***	Type 2	c.2921_2922delCA	p.Thr974Argfs*80	c.2921_2922delCA	p.Thr974Argfs*80		***

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Primary Mutation Type Distribution