LOVD - Variant listings for HBB

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Patient data (#0002194)
Disease rare variant
Reference BASU Anupam (K-1838-2014)LALL Pinki; PANJA Amtita; SAHA Dipankar; HbVar A-2391-2010;
Template Protein
Technique Amino
Remarks beta -176(C>T)
# Reported 1
Disease Mesh ID -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBB:c.-176C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
DB-ID HBB_01872
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.-176C>T - - HBB_01872 HbVar