LOVD - Variant listings for HBA1

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Patient data (#0000039)
Disease Hb variants
Reference (OMIM 0091);dbSNP;dbSNP;SwissVar VAR_002746;Moo-Penn WF et al.;Groff P et al.;
Template Protein
Technique Amino
Remarks Hb Luxembourg
# Reported 1
Ethnic origin -
Disease Mesh ID C062067
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBA1:c.73T>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Tyr25His
Re-site -
Frequency -
DB-ID HBA1_00039
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.73T>C - p.Tyr25His - - HBA1_00039 HbVar