LOVD - Variant listings for HBA1

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Patient data (#0002259)
Disease alpha-1 thal
Reference Fortina P et al.;Pressley L et al.;
Template DNA
Technique SEQ
Remarks -(alpha)5.2; deletion of 5196 nt 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 NG_000006.1:g.32867_38062del   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBA1_01933
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 NG_000006.1:g.32867_38062del - - - - HBA1_01933 HbVar