LOVD - Variant listings for KLF1

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Patient data (#0002003)
Disease -
Reference Lucia Perseu (A-3104-2011); Stefania Satta (A-3101-2011); Renzo Galanello (A-3099-2011)
Template DNA
Technique PCR
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 3
DNA change NM_006563.3:c.994A>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein NP_006554.1:p.Lys332Gln
Re-site -
Frequency 4
DB-ID KLF1_00017

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 3 NM_006563.3:c.994A>C - NP_006554.1:p.Lys332Gln - 4 KLF1_00017