LOVD - Variant listings for HBD

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Patient data (#0002597)
Disease Hb variants
Reference Jennifer Herrick (0000-0001-7082-9920);
Template DNA
Technique SEQ
Remarks Hb Lepore Rochester-MN
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change NG_000007.3:g.[63191_70603dup;63291_70703del]
RNA change -
Protein -
Re-site -
Frequency -
DB-ID HBD_02269
HbVar link -

1 entry in HBD

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 NG_000007.3:g.[63191_70603dup;63291_70703del] - - - - HBD_02269 -

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