All variants in the ABCA12 gene

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

1 entry on 1 page. Showing entry 1.
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     
+/. 35 c.5393C>T r.(?) p.(Pro1798Leu) - pathogenic g.215839577G>A g.214974853G>A Pro1798Leu - ABCA12_000047 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - Marianne Vos (LOVD-team)
Legend   How to query