LOVD - Variant listings for HBA1

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Patient data (#0002221)
Disease Hb variants
Reference EYRE J. (O-2278-2014);JESSOP N. (D-2137-2016);KEENEY S.; PARKINSON T. (O-3514-2014);HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb King Ecgbert
# Reported 1
Ethnic origin -
Disease Mesh ID D006455
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.55G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Gly19Ser
Re-site -
Frequency -
DB-ID HBA1_01895
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.55G>A - p.Gly19Ser - - HBA1_01895 HbVar