LOVD - Variant listings for HBA1

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Patient data (#0000220)
Disease alpha-1 thal
Reference (OMIM 0063);dbSNP;Siala H et al.;
Template DNA
Technique SEQ
Remarks alpha1 cd23 GAG->TAG
# 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 HBA1:c.70G>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu24Stop
Re-site -
Frequency -
DB-ID HBA1_00220
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 HBA1:c.70G>T - p.Glu24Stop - - HBA1_00220 HbVar