View unique variants - Eye diseases - LOVD - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RLBP1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RLBP1 full legend here.

1 entry
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein

DB-ID

Variant remarks

Origin

Reference

Detection/Template

Detection/Technique

Frequency

RE-site


6_9	c.525_945del (Reported 2 times)	-	r.del	p.(?)	RLBP1_00001	segregates in family	germline (inherited)	Neveling 2012, submitted	DNA	SEQ, SEQ-NG-S	-	-

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Legend: [ RLBP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein: Protein RLBP1 DB-ID: DB-ID Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: RE-site

Eye diseases - LOVD

Retinaldehyde binding protein 1 (RLBP1)