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.1607T>C r.(?) p.(Ile536Thr) - likely benign g.215884110A>G g.215019386A>G ABCA12(NM_015657.3):c.653T>C (p.(Ile218Thr)) - ABCA12_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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