LOVD - Variant listings for HBG1

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Patient data (#0001913)
Disease HPFH
Reference dbSNP;Barnaby C (E-6612-2010);
Template Protein
Technique Amino
Remarks A Gamma -197 C>T
# Reported 1
Disease Mesh ID D013789

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG1:c.-250C>T   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBG1_01651
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.-250C>T - - - - HBG1_01651 HbVar