LOVD - Variant listings for HBB

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Patient data (#0001098)
Disease beta0 thal
Reference (OMIM 0345);dbSNP;Jankovic L et al.;
Template DNA
Technique SEQ
Remarks Initiation codon ATG->ACG beta0
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.2T>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Met1Thr
DB-ID HBB_01098
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.2T>C - p.Met1Thr HBB_01098 HbVar