LOVD - Variant listings for HBA1

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Patient data (#0001506)
Disease alpha-1 thal
Reference Nicholls RD et al.;Bowden DK et al.;
Template Protein
Technique Amino
Remarks -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1-2
DNA change NC_000016.9:g.204300_227000del   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBA1_01506
HbVar link HbVar

1 entry in HBA1

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 1-2 NC_000016.9:g.204300_227000del - - - - HBA1_01506 HbVar