LOVD - Variant listings for HBD

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Patient data (#0001385)
Disease Hb variants
Reference (OMIM 0012);dbSNP;SwissVar VAR_003098;Jong WW de et al.;Ranney HM et al.;Aksoy M et al.;Vella F et al.;
Template Protein
Technique Amino
Remarks Hb A2-NYU
# Reported 1
Ethnic origin -
Disease Mesh ID C039470
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBD:c.39T>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Asn13Lys
Re-site -
Frequency -
DB-ID HBD_01385
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.39T>A - p.Asn13Lys - - HBD_01385 HbVar