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

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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.

36 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID


-	NC_000019.9:g.12998078T>C	-	-	-	-	KLF1_00012
-	NC_000019.9:g.12998102G>A	-	-	-	-	KLF1_00011
1	c.13G>A (Reported 2 times)	-	p.Glu5Lys	-	1	KLF1_00033
2	NM_006563.2:c.115A>C	-	NP_006554.1:p.Met39Leu	-	10	KLF1_00009
2	NM_006563.2:c.380T>A	-	NP_006554.1:p.Leu127X	-	1	KLF1_00001
2	NM_006563.2:c.569delC	-	NP_006554.1:p.Pro190LeufsX47	-	6	KLF1_00002
2	NM_006563.2:c.862A>T	-	NP_006554.1:p.Lys288X	-	10	KLF1_00010
2	NM_006563.2:c.874A>T	-	NP_006554.1:p.Lys292X	-	1	KLF1_00003
2	NM_006563.2:c.895C>T	-	NP_006554.1:p.His299Tyr	-	1	KLF1_00004
2	NM_006563.3:c.519_525dupCGGCGCC (Reported 2 times)	-	p.Gly176ArgfsTer179	-	-	KLF1_00035
2	NM_006563.3:c.544T>C	-	NP_006554.1:p.Phe182Leu	-	-	KLF1_00014
2	NM_006563.3:c.809C>A	-	NP_006554.1:p.Ser270X	-	25	KLF1_00015
2	NM_006563.3:c.892G>C	-	p.Ala298Pro	-	-	KLF1_00034
2	c.310_311insG	-	p.Ala104GlyfsTer249	-	-	KLF1_00018
2	c.519_520insC	-	p.Gly174ArgfsTer179	-	-	KLF1_00019
2	c.519_525dupCGGCGCC (Reported 2 times)	-	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
2	c.892G>C	-	p.Ala298Pro	-	1	KLF1_00028
2	c.895C>G	-	p.His299Asp	-	10	KLF1_00029
2	c.913+1G>A	-	-	-	1	KLF1_00031
3	c.1071C>A	-	p.His357Gln	-	-	KLF1_00027
3	NM_006563.2:c.954dupG	-	NP_006554.1:p.Arg319GlufsX34	-	8	KLF1_00005
3	NM_006563.2:c.973G>A	-	NP_006554.1:p.Glu325Lys	-	-	KLF1_00013
3	NM_006563.2:c.983G>A	-	NP_006554.1:p.Arg328His	-	1	KLF1_00007
3	NM_006563.2:c.983G>T	-	NP_006554.1:p.Arg328Leu	-	1	KLF1_00006
3	NM_006563.2:c.991C>G	-	NP_006554.1:p.Arg331Gly	-	1	KLF1_00008
3	NM_006563.3:c.1012C>T	-	p.Pro338Ser	-	-	KLF1_00036
3	NM_006563.3:c.977T>G	-	NP_006554.1:p.Leu326Arg	-	1	KLF1_00016
3	NM_006563.3:c.994A>C	-	NP_006554.1:p.Lys332Gln	-	4	KLF1_00017
3	c.954_955insG	-	p.Arg319GlufsTer34	-	-	KLF1_00025
3	c.977T>G	-	p.Leu326Arg	-	-	KLF1_00026
3	c.1001C>G	-	p.Thr334Arg	-	1	KLF1_00032
3	c.1022G>A	-	p.Cys341Tyr	-	2	KLF1_00030

1 - 36

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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.

The Globin Gene Server

Kruppel-like factor 1 (erythroid) (KLF1)