RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

CFHR3

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2 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	chr1:g.(?_196,743,929)_(196,788,860_?)del (NCBI Build 37.1)	-	-	-	No transcript	Multiplex ligation-dependent probe amplification	Abarrategui-Garrido C et al., 2009	Click here
2	Deletion	chr1:g.(?_196,743,929)_(196,788,860_?)del (NCBI Build 37.1)	-	-	-	No transcript	NA	Jozsi M et al., 2008	Click here
3	Deletion	g.18560_18561delTA	c.839_840delTA	-	p.Ile280LysfsX6	Frameshift	Direct sequencing	Abarrategui-Garrido C et al., 2009	Click here

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