All variants in the ABCA12 gene

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.6091T>G r.(?) p.(Trp2031Gly) - likely pathogenic g.215823027A>C g.214958303A>C ABCA12(NM_173076.3):c.6091T>G (p.W2031G) - ABCA12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.6091T>G r.(?) p.(Trp2031Gly) - VUS g.215823027A>C g.214958303A>C ABCA12(NM_173076.3):c.6091T>G (p.W2031G) - ABCA12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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