LOVD - Variant listings for HBG2

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Patient data (#0000578)
Disease Hb variants
Reference (OMIM 0029);dbSNP;SwissVar VAR_003136;de Pablos JM et al.;
Template Protein
Technique Amino
Remarks Hb F-Granada
# Reported 1
Ethnic origin -
Disease Mesh ID C055565
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG2:c.68A>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Asp23Val
Re-site -
Frequency -
DB-ID HBG2_00578
HbVar link HbVar

1 entry in HBG2

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 HBG2:c.68A>T - p.Asp23Val - - HBG2_00578 HbVar