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Table 1 Sequence Analysis Revealed Six Unclassified Variants in the CHD7 Gene

From: Unique phenotype in a patient with CHARGE syndrome

Nucleotide Change
NM_017780
Amion Acid Change
NP_060250
SNP ID*
Missense changes   
c.2230G→A p.G744S -
c.6478G→A p.A2160T rs61753399
Silent Changes   
c.309G→A p.S103S rs41272435
c.657C→T p.G219G -
c.2124T→C p.S708S -
c.7590A→G p.K2530K rs61742801
  1. *Reported in the Single Nucleotide Polymorphism database dbSNP:http:www.ncbi.nlm.nih.gov//SNP