RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

PhenomeR

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DKC1

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9 unique mutation(s) annotated from 9 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.2717T>C	c.113T>C	-	p.Ile38Thr	Missense defects	Direct sequencing	Cossu F et al., 2002	Click here
2	Substitution	g.2750C>T	c.146C>T	-	p.Thr49Met	Missense defects	SSCP	Knight SW et al., 1999	Click here
3	Substitution	g.2750C>T	c.146C>T	-	p.Thr49Met	Missense defects	Denaturing HPLC	Sznajer Y et al., 2003	Click here
4	Inversions	g.2770_2771invCT	c.166_167invCT	-	p.Leu56Ser	Missense defects	SSCP	Kurnikova M et al., 2009	Click here
5	Substitution	g.3194C>T	c.214C>T	-	p.Leu72Phe	Missense defects	Direct sequencing, SSCP	Hamidah A et al., 2008	Click here
6	Substitution	g.3558A>G	c.361A>G	-	p.Ser121Gly	Missense defects	Direct sequencing	Knight SW et al., 1999	Click here
7	Substitution	g.8037C>T	c.949C>T	-	p.Leu317Phe	Missense defects	NA	Rostamiani K et al., 2010	Click here
8	Substitution	g.8053G>A	c.965G>A	-	p.Arg322Gln	Missense defects	NA	Rostamiani K et al., 2010	Click here
9	Substitution	g.10397C>T	c.1058C>T	-	p.Ala353Val	Missense defects	Direct sequencing	Yaghmai R et al., 2000	Click here
10	Substitution	g.10397C>T	c.1058C>T	-	p.Ala353Val	Missense defects	Direct sequencing	Tamhankar PM et al., 2010	Click here
11	Substitution	g.11951G>A	c.1259+1G>A	-	p.Glu421X	Splice donor defects, Nonsense defects	Restriction enzyme analysis	Pearson T et al., 2008	Click here

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