All variants in the ABCA10 gene

Information The variants shown are described using the NM_080282.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

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.-46087T>C r.(?) p.(=) - VUS g.67286164A>G - ABCA5(NM_018672.4):c.1621T>C (p.Y541H) - ABCA5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-24003dup r.(?) p.(=) - VUS g.67264081dup g.69267940dup ABCA5(NM_018672.3):c.3144+4dup (p.?) - ABCA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-17812G>A r.(?) p.(=) - likely benign g.67257889C>T - ABCA5(NM_018672.4):c.3316G>A (p.V1106I) - ABCA5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.442A>T r.(?) p.(Ile148Leu) - likely benign g.67215774T>A - ABCA10(NM_080282.3):c.442A>T (p.I148L) - ABCA5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3280C>G r.(?) p.(Gln1094Glu) - VUS g.67161107G>C - ABCA10(NM_080282.3):c.3280C>G (p.(Gln1094Glu)) - ABCA5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query