Variants of ABCG2 located in coding regions
! These entries do not include the mined mutations.
Variation |
Location |
Effect |
Review status |
URL |
p.Val12Met |
exon 2 |
? |
association |
ClinVar |
p.Gln126* |
exon 4 |
? |
association |
ClinVar |
p.Gln141Lys |
exon 5 |
? |
association |
ClinVar |
p.Arg236* |
exon 7 |
? |
association |
ClinVar |
p.Arg246* |
exon 7 |
D |
Pathogenic |
ClinVar |