Search unique variants - The Globin Gene Server - Leiden Open Variation Database

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

About this overview [Show]

The variants below are all in the KLF1 database, matching your query. 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 KLF1 full legend here.

10 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID


2	c.310_311insG	-	p.Ala104GlyfsTer249	-	-	KLF1_00018
2	c.519_520insC	-	p.Gly174ArgfsTer179	-	-	KLF1_00019
2	c.519_525dupCGGCGCC	-	p.Gly176ArgfsTer179	-	-	KLF1_00020
2	c.569delC	-	p.Pro190LeufsTer47	-	-	KLF1_00021
2	c.591C>G	-	p.Tyr197Ter	-	-	KLF1_00022
2	c.663delG	-	p.Leu222SerfsTer15	-	-	KLF1_00023
2	c.862A>G	-	p.Lys288Glu	-	-	KLF1_00024
3	c.1071C>A	-	p.His357Gln	-	-	KLF1_00027
3	c.954_955insG	-	p.Arg319GlufsTer34	-	-	KLF1_00025
3	c.977T>G	-	p.Leu326Arg	-	-	KLF1_00026

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Click here to save this list in a tab-delimited text file.

Legend: [ KLF1 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.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. KLF1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

The Globin Gene Server

Kruppel-like factor 1 (erythroid) (KLF1)