Mutations

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ToggleEditProtein contains 'No experimental data'

Protein

1 - 4 of 4

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
1527	c.1527+1G>C	No experimental data	Splice	Intron 12	1	2
1645	c.1645-1G>A	No experimental data	Splice	Intron 13	1	1
1830	c.1830+1G>A	No experimental data	Splice	Intron 14	1	1
1929	c.1929-2A>G	No experimental data	Splice	Intron 15	1	2

1 - 4 of 4

c.1929-2A>G, No experimental data

The sequence variant c.1929-2A>G is located in the acceptor splice site of intron 15 and is predicted to interfere with the splicing process, but its consequences have not been studied experimentally.

Mutation Details

Mutation type

Splice

Localization

Intron 15

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1929-2A>G / No experimental data

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
138	***	Saudi Arabia	***	Type 2	c.1929-2A>G	No experimental data	c.1929-2A>G	No experimental data		***

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Primary Mutation Type Distribution