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     
+/. 50 c.7436G>A r.[7374_7436del; 7344_7436del; 7436g>a; 7387_7436del; 7433_7436del] p.[Leu2459_Arg2479del; Ser2448_Ser2478del; Arg2479Lys; Val2463fs*; Ser2478fs*] - pathogenic g.215807649C>T g.214942925C>T - - ABCA12_000054 - PubMed: Akiyama 2007 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
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