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     
+/. 42 c.6161_6162del r.(?) p.(Ala2054Aspfs*10) - pathogenic g.(215821458_215797357)_(215851453215821459)del g.214956734_214956735del 6378delGC - ABCA12_000003 - PubMed: Kelsell 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
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