LOVD - Variant listings for HBG1

About this overview [Show]

Patient data (#0000666)
Disease Hb variants
Reference (OMIM 0037);dbSNP;M Pirastru et al.;
Template DNA
Technique SEQ
Remarks Hb F-Porto Torres
# Reported 1
Ethnic origin -
Disease Mesh ID C500300
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 3
DNA change HBG1:c.409G>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Ala137Ser
Re-site -
Frequency -
DB-ID HBG1_00666
HbVar link HbVar

1 entry in HBG1

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 3 HBG1:c.409G>T - p.Ala137Ser - - HBG1_00666 HbVar