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.-1190C>T r.(?) p.(=) - likely pathogenic g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.G79R), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-1190C>T r.(?) p.(=) - VUS g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.G79R), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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