LOVD - Variant listings for HBG1

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Patient data (#0000629)
Disease Hb variants
Reference (OMIM 0005);dbSNP;SwissVar VAR_003130;Nakatsuji T et al.;
Template Protein
Technique Amino
Remarks Hb F-Calluna
# Reported 1
Ethnic origin -
Disease Mesh ID C040491
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG1:c.38C>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Thr13Arg
Re-site -
Frequency -
DB-ID HBG1_00629
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 1 HBG1:c.38C>G - p.Thr13Arg - - HBG1_00629 HbVar