Variants of ABCG8 located in coding regions
! These entries do not include the mined mutations.
Variation |
Location |
Effect |
Review status |
URL |
p.Pro17= |
exon 1 |
N |
Benign |
ClinVar |
p.Asp19His |
exon 1 |
D |
Pathogenic |
ClinVar |
p.Ser107* |
exon 3 |
D |
Pathogenic |
ClinVar |
p.Pro231Thr |
exon 5 |
D |
Pathogenic |
ClinVar |
p.Trp361* |
exon 7 |
D |
Pathogenic |
ClinVar |
p.Thr400Lys |
exon 8 |
N |
Benign |
ClinVar |
p.Thr401Ser |
exon 8 |
? |
Uncertain significance |
ClinVar |
p.Arg412* |
exon 9 |
D |
Pathogenic |
ClinVar |
p.Val463Ile |
exon 9 |
? |
Uncertain significance |
ClinVar |
p.Lys496Glu |
exon 10 |
? |
Uncertain significance |
ClinVar |
p.Leu596Arg |
exon 12 |
D |
Pathogenic |
ClinVar |
p.Tyr658* |
exon 13 |
D |
Pathogenic |
ClinVar |