Unique variants in the ABCA5 gene

Information The variants shown are described using the NM_018672.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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     
?/. 1 - c.1621T>C r.(?) p.(Tyr541His) - 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
?/. 1 - c.3144+4dup r.spl? 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
-?/. 1 - c.3316G>A r.(?) p.(Val1106Ile) - 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
?/. 1 - c.4320+1G>C r.spl p.? ACMG VUS g.67249934C>G g.69253793C>G - - ABCA5_000006 - - - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.*27904A>T r.(=) p.(=) - 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
?/. 1 - c.*82571C>G r.(=) p.(=) - 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
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