All variants in the ABCG8 gene

Information The variants shown are described using the NM_022437.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.29G>C r.(?) p.(Gly10Ala) - likely benign g.44066221G>C g.43839082G>C ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A) - ABCG5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.29G>C r.(?) p.(Gly10Ala) - likely benign g.44066221G>C - ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A) - ABCG5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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