LOVD - Variant listings for KLF1

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

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10 entries
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Exon Hide Exon column Descending

DNA change   Descending

RNA change Hide RNA change column Descending

Protein Hide Protein column Descending

Re-site Hide Re-site column Descending

Frequency Hide Frequency column Descending

DB-ID Hide DB-ID column Descending
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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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.