LOVD - Variant listings for KLF1

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Patient data (#0002001)
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 2
DNA change NM_006563.3:c.809C>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein NP_006554.1:p.Ser270X
Re-site -
Frequency 25
DB-ID KLF1_00015

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 NM_006563.3:c.809C>A - NP_006554.1:p.Ser270X - 25 KLF1_00015