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rs104894225

From SNPedia

OMIM142250
Desc
Variant0039
Relatedalso
ClinVar
Risk rs104894225(C;C)
Alt rs104894225(C;C)
Reference rs104894225(T;T)
Significance Other
Disease HEMOGLOBIN F (WAYNESBORO) HEMOGLOBIN F (LESVOS)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (WAYNESBORO) HEMOGLOBIN F (LESVOS)
Reversed 1
HGVS NC_000011.9:g.5275610A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016134.1, RCV000030902.1,


[PMID 7852085] Hb F-Sassari: a novel G gamma variant with a threonine residue at position gamma 75, characterized by mass spectrometric techniques.


[PMID 8566966] HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family.