All variants in the ABCA12 gene

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     
+/. 7 c.859C>T r.(?) p.(Arg287*) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 - PubMed: Castiglia 2009 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 7 c.859C>T r.(?) p.(Arg287*) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 - PubMed: Castiglia 2009 - - Uniparental disomy, paternal allele yes - - 0 - Marianne Vos (LOVD-team)
+/. - c.859C>T r.(?) p.(Arg287Ter) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
Legend   How to query