LOVD - Variant listings for KL

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Patient data (#0001619)
Disease -
Reference Sebastiani et al., 2008 dbSNP
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 04
DNA change NM_004795.3:c.2247T>C   (View in UCSC Genome Browser, Ensembl)
RNA change NM_004795.3:c.2247T>C
Protein -
Re-site -
Frequency -
DB-ID KL_00005

1 entry in KL

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 04 NM_004795.3:c.2247T>C NM_004795.3:c.2247T>C - - - KL_00005