Mutations

Reset Report

Report Settings

ToggleEditProtein contains '(intronic)'

Protein

1 - 5 of 5

PosAscending	Mutation	Protein	Primary	Exon/Intron
1309	c.1309+34C>A	(intronic)	Benign	Intron 10
1310	c.1310-22T>C	(intronic)	Benign	Intron 10
2267	c.2267+3G>C	(intronic)	Benign	Intron 18
2267	c.2267+63G>A	(intronic)	Benign	Intron 18
2268	c.2268-45T>G	(intronic)	Benign	Intron 18

1 - 5 of 5

c.2267+63G>A, (intronic)

The sequence variant c.2227+63G>A (dbSNP rs3815914) is located in intron 18. It has a minor allele frequency of 0.47 and is considered a common, benign SNP.

Mutation Details

Mutation type

Benign

Localization

Intron 18

Number of Patients

References

Berg et al. 1999

Riise Stensland et al. 2012

Primary Mutation Type Distribution