LOVD - Variant listings for KLF1

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Patient data (#0002073)
Disease -
Reference France:Paris
Template DNA
Technique SEQ
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -
Submitter Lionel Arnaud

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 2
DNA change c.519_525dupCGGCGCC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Gly176ArgfsTer179
Re-site -
Frequency -
DB-ID KLF1_00020

1 entry 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 2 c.519_525dupCGGCGCC - p.Gly176ArgfsTer179 - - KLF1_00020