Variant ID	Exon
200	Exon 54 - CDS

RNA effect

unknown

This deletion creates a frame shift starting at codon Thr2457. The new reading frame ends in a STOP codon 26 positions downstream.

Patient information

Allele 1

Allele 2

Patient ID

Family ID

Gender

Age

Origin

Disease

Segregation

Parental consanguinity

Consanguinity degree

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Reference

LCA-JS-3 II-2

LCA-JS-3

male

JS + retina

yes

yes

Exon 54 - CDS

c.7366_7369del

p.Thr2457AlafsX27

Direct sequencing (Sanger)

Exon 54 - CDS

c.7366_7369del

p.Thr2457AlafsX27

Direct sequencing (Sanger)

LCA-JS-3 II-1

LCA-JS-3

female

JS + retina

yes

yes

Exon 54 - CDS

c.7366_7369del

p.Thr2457AlafsX27

Direct sequencing (Sanger)

Exon 54 - CDS

c.7366_7369del

p.Thr2457AlafsX27

Direct sequencing (Sanger)