RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on June 03, 2013

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CHD7

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9 unique mutation(s) annotated from 5 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	Substitution	g.63342C>G	c.689C>G	-	p.Ser230X	Nonsense defects	Direct sequencing, PCR based assay	Gennery AR et al., 2008	Click here
2	Substitution	g.63689A>T	c.1036A>T	-	p.Arg346X	Nonsense defects	Denaturing HPLC	Inoue H et al., 2010	Click here
3	Deletion	g.116207_116348del	c.2097_2238del	-	-	NA	Direct sequencing, Multiplex ligation-dependent probe amplification	Wincent J et al., 2008	Click here
4	Substitution	g.137614T>G	c.2505T>G	-	p.Tyr835X	Nonsense defects	Direct sequencing, PCR based assay	Gennery AR et al., 2008	Click here
5	Deletion	g.143052delT	c.2739delT	-	p.Tyr913X	Nonsense defects	Multiplex ligation-dependent probe amplification	Wincent J et al., 2008	Click here
6	Deletion	g.157353_157366del	c.3838_3851del	-	p.Phe1280AsnfsX12	Frameshift	Direct sequencing	Kaliakatsos M et al., 2010	Click here
7	Deletion	g.159470delT	c.4527delT	-	p.Phe1509LeufsX37	Frameshift	Direct sequencing, PCR based assay	Gennery AR et al., 2008	Click here
8	Substitution	g.174238C>T	c.6292C>T	-	p.Arg2098X	Nonsense defects	Direct sequencing, PCR based assay	Gennery AR et al., 2008	Click here
9	Insertion	g.183527_183528insTG	c.7941_7942insTG	-	p.Pro2648CysfsX19	Frameshift	Direct sequencing	Sanka M et al., 2007	Click here

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