LOVD - Variant listings for HBD

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Patient data (#0001418)
Disease delta+ thal
Reference dbSNP;Papadakis M et al.;
Template DNA
Technique SEQ
Remarks -36 (C->A); probably delta+
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBD:c.-86C>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBD_01418
HbVar link HbVar

1 entry in HBD

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
HbVar link Descending
Ascending
+?/? Unknown 1 HBD:c.-86C>A - - - - HBD_01418 HbVar