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     
-/. - c.4941C>T r.(?) p.(Ile1647=) - benign g.215843564G>A g.214978840G>A ABCA12(NM_173076.2):c.4941C>T (p.I1647=) - ABCA12_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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