LOVD - Variant listings for KLF1

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Patient data (#0001845)
Disease -
Reference Singleton et al., 2008
Template DNA
Technique SEQ
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_006563.2:c.380T>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein NP_006554.1:p.Leu127X
Re-site -
Frequency 1
DB-ID KLF1_00001

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_006563.2:c.380T>A - NP_006554.1:p.Leu127X - 1 KLF1_00001