Mutations

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ToggleEditMutation = 'c.1109+3A>G'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1109	c.1109+3A>G		VUS (Unknown clinical significance)	Intron 8	1	1

1 - 1 of 1

c.1109+3A>G,

The sequence variant c.1109+3A>G is located in the 5’ end of intron 8 and might interfere with the splicing process, but its consequences have not been studied experimentally.

Mutation Details

Mutation type

VUS (Unknown clinical significance)

Localization

Intron 8

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1109+3A>G /

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
122	***	Guyana	***	Type 2	c.295T>C	p.Tyr99His	c.1109+3A>G		Yes	***

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Primary Mutation Type Distribution