RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

CFHR1

View ALL

3 unique mutation(s) annotated from 1 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.(?_196,788,860)_(196,857,211_?)del (NCBI Build 37.1)	-	-	-	No transcript	Multiplex ligation-dependent probe amplification	Abarrategui-Garrido C et al., 2009	Click here
3	Substitution	g.8388C>A	c.479C>A	-	p.Ser160X	Nonsense defects	Direct sequencing	Abarrategui-Garrido C et al., 2009	Click here

  Unique visitors: 21278
  (since May 2009)
  Users online: 1

This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.