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Table 2 CGNA1 mutations detected in proband

From: Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing

Gene symbol

Position

Transcript ID

Exon NO.

DNA change

Protein change

Hom/Het

Frequency

CNGA1

chr4 47951884-47951885

NM_000087

exon 6

c.265delC

p.L89fs

het

0.0074

CNGA1

chr4 47951903

NM_000087

exon 6

c.246C > A

p.Y82X

het

0

  1. Hom homozygous, Het heterozygous, Frequency: mutation frequency in control group of 400 healthy individuals
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BMC Ophthalmology

ISSN: 1471-2415

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