LOVD - Variant listings for HBD

About this overview [Show]

Patient data (#0001392)
Disease Thalassemia
Reference (OMIM 0028);dbSNP;SwissVar VAR_003105;Angioletti MD et al.;Oggiano L et al.;Loudianos G et al.;
Template DNA
Technique SEQ
Remarks Hb A2-Yialousa
# 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 HBD:c.82G>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Ala28Ser
Re-site -
Frequency -
DB-ID HBD_01392
HbVar link HbVar

1 entry in HBD

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 HBD:c.82G>T - p.Ala28Ser - - HBD_01392 HbVar