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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
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International Journal of Pediatric Endocrinology

ISSN: 1687-9856

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