LOVD - Variant listings for KLF1

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Patient data (#0002153)
Disease -
Reference China:Guangzhou
Template DNA
Technique SEQ
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin China
Submitter Dun Liu

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change c.913+1G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency 1
DB-ID KLF1_00031

8 entries in KLF1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown 1 c.13G>A - p.Glu5Lys - 1 KLF1_00033
?/? Unknown 1 c.13G>A - p.Glu5Lys - 1 KLF1_00033
+?/? Unknown 2 c.519_525dupCGGCGCC - p.Gly176AlafsX179 - 48 KLF1_00020
+?/? Unknown 2 c.892G>C - p.Ala298Pro - 1 KLF1_00028
+?/? Unknown 2 c.895C>G - p.His299Asp - 10 KLF1_00029
+?/? Unknown 2 c.913+1G>A - - - 1 KLF1_00031
+?/? Unknown 3 c.1001C>G - p.Thr334Arg - 1 KLF1_00032
+?/? Unknown 3 c.1022G>A - p.Cys341Tyr - 2 KLF1_00030