LOVD - Variant listings for HBG2

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Patient data (#0000615)
Disease HPFH
Reference dbSNP;Motum PI et al.;
Template DNA
Technique SEQ
Remarks -114 (C->G) Ggamma; the Australian nd-HPFH
# Reported 1
Ethnic origin -
Disease Mesh ID D013789
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change HBG2:c.-167C>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBG2_00615
HbVar link HbVar

1 entry in HBG2

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 HBG2:c.-167C>G - - - - HBG2_00615 HbVar