LOVD - Variant listings for HBS1L

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Patient data (#0001968)
Disease -
Reference Galarneau et al., 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 -
DNA change NM_006620.3:c.130C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein NP_006611.1:p.Arg44Trp
Re-site -
Frequency -
DB-ID HBS1L_00008

1 entry in HBS1L

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 - NM_006620.3:c.130C>T - NP_006611.1:p.Arg44Trp - - HBS1L_00008