LOVD - Variant listings for HBG1

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Patient data (#0000658)
Disease HPFH
Reference (OMIM 0030);dbSNP;Costa FF et al.;
Template DNA
Technique SEQ
Remarks -195 (C->G) Agamma; the Brazilian 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 HBG1:c.-248C>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBG1_00658
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.-248C>G - - - - HBG1_00658 HbVar