All variants in the ABCC12 gene

Information The variants shown are described using the NM_033226.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.52C>T r.(?) p.(Arg18Trp) - VUS g.48180284G>A - ABCC12(NM_033226.2):c.52C>T (p.R18W) - ABCC12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.490G>T r.(?) p.(Gly164*) - pathogenic g.48174765C>A g.48140854C>A - - ABCC12_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.3071G>A r.(?) p.(Trp1024*) - pathogenic g.48130781C>T g.48096870C>T - - ABCC12_000002 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.3071G>A r.(?) p.(Trp1024*) - pathogenic g.48130781C>T g.48096870C>T - - ABCC12_000002 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.3071G>A r.(?) p.(Trp1024*) - pathogenic g.48130781C>T g.48096870C>T - - ABCC12_000002 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.3655G>A r.(?) p.(Glu1219Lys) - likely benign g.48120711C>T g.48086800C>T ABCC12(NM_033226.2):c.3655G>A (p.E1219K) - ABCC12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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