All variants in the ABCA12 gene

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

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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     
+/. 40 c.5939C>A r.(?) p.(Thr1980Lys) - pathogenic g.215823748G>T g.214959024G>T Thr1980Lys - ABCA12_000048 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - Marianne Vos (LOVD-team)
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