LOVD - Variant listings for HBA1

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Patient data (#0001677)
Disease Hb variants
Reference dbSNP;Fraser L; Green B; Henthorn JS; Moradkhani K (E-4221-2010);HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks Hb Baldock
# 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.4G>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Val2Leu
Re-site -
Frequency -
DB-ID HBA1_01573
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.4G>T - p.Val2Leu - - HBA1_01573 HbVar