All variants in the ABCA12 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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     
+/. 32 c.4951G>A r.(?) p.(Gly1651Ser) - pathogenic g.215843554C>T g.214978830C>T - - ABCA12_000056 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 32 c.4951G>A r.(?) p.(Glu1651Ser) - pathogenic g.215843554C>T g.214978830C>T 4851G>A - ABCA12_000056 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
Legend   How to query