All transcript variants in gene ABCA6

Information The variants shown are described using the NM_080284.2 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     
?/. - c.2531G>A r.(?) p.(Arg844His) - VUS g.67102211C>T g.69106070C>T - - ABCA6_000001 - PubMed: Morimoto 2018, Journal: Morimoto 2018 - - Germline - - - 0 - Johan den Dunnen
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