Mutations

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ToggleEditProtein contains 'p.Leu951Cysfs*82'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2851	c.2851delC	p.Leu951Cysfs*82	Deletion	Exon 23	1	2

1 - 1 of 1

c.2851delC, p.Leu951Cysfs*82

The sequence variant c.2851delC in exon 23 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Leu951CysfsX82).

Mutation Details

Mutation type

Deletion

Localization

Exon 23

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2851delC / p.Leu951Cysfs*82

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
118	***		***		c.2851delC	p.Leu951Cysfs*82	c.2851delC	p.Leu951Cysfs*82		***

1-1

Primary Mutation Type Distribution