Variant ID	Exon
160	Exon 6

Domains	RNA effect
CC I	unknown

The mRNA produced might be targeted for nonsense mediated decay (NMD).

This deletion creates a frame shift starting at codon Asp128. The new reading frame ends in a STOP codon 16 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-10

LCA-10

female

Lithuania

LCA

yes

no

Exon 6

c.384_385del

p.Asp128GlufsX17

Direct sequencing (Sanger)

Intron 26

c.2991+1655A>G

p.Cys998X

Direct sequencing (Sanger)