All variants in the ABCA8 gene

Information The variants shown are described using the NM_007168.2 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.1493C>G r.(?) p.(Ala498Gly) - VUS g.66918391G>C g.68922250G>C ABCA8(NM_007168.2):c.1493C>G (p.(Ala498Gly)) - ABCA8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1796T>C r.(?) p.(Leu599Pro) - VUS g.66914319A>G g.68918178A>G ABCA8(NM_007168.2):c.1796T>C (p.(Leu599Pro)) - ABCA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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