LOVD - Variant listings for HBB

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Patient data (#0000691)
Disease Hb variants
Reference (OMIM 0099);dbSNP;SwissVar VAR_002874;Manca L et al.;Su CW et al.;Wong SC et al.;
Template Protein
Technique Amino
Remarks Hb Hamilton
# Reported 1
Disease Mesh ID C040089

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.34G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Val12Ile
DB-ID HBB_00691
HbVar link HbVar

1 entry in HBB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
HbVar link Descending
Ascending
+?/? Unknown 1 HBB:c.34G>A - p.Val12Ile HBB_00691 HbVar