From: Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
Family members
Exon
Reference sequence
Type
cDNA
Protein
Father
8
NM_000037.3
Wild
c.790C
p. Gln264
Mather
Mutant
c.790C > T
p. Gln264Ter
propositus