RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

RECQL4

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3 unique mutation(s) annotated from 2 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Deletion	g.250_274del25	c.118+27_118+51del25	-	-	Splice anomalies	Direct sequencing	Broom MA et al., 2006	Click here
2	Deletion	g.[1756_1757delAG; 2584G>A]	c.[1048_1049delAG; 1391-1G>A]	-	-	Frameshift, Splice acceptor defects	Direct sequencing	De Somer L et al., 2010	Click here
3	Substitution	g.5265A>T	c.2887-2A>T	-	-	Splice acceptor defects	Direct sequencing	Broom MA et al., 2006	Click here

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