LOVD - Variant listings for HBD

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Patient data (#0001998)
Disease delta (0 or + unclear) thal
Reference dbSNP;Gallivan (A-9986-2010);
Template Protein
Technique Amino
Remarks Codon 82 (AAG->TAG) delta0
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 2
DNA change HBD:c.247A>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Lys83Stop
Re-site -
Frequency -
DB-ID HBD_01722
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 2 HBD:c.247A>T - p.Lys83Stop - - HBD_01722 HbVar