LOVD - Variant listings for HBD

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Patient data (#0001419)
Disease delta+ thal
Reference dbSNP;SwissVar VAR_018740;Trifillis P et al.;
Template DNA
Technique SEQ
Remarks Codon 4 (ACT->ATT) delta+
# 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.14C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Thr5Ile
Re-site -
Frequency -
DB-ID HBD_01419
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.14C>T - p.Thr5Ile - - HBD_01419 HbVar