Unique variants in gene ABCA10

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-26814G>A likely benign r.(?) p.(=) g.67266891C>T - ABCA5(NM_018672.3):c.2893G>A (p.(Asp965Asn)) - chr17_007044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-24003dup VUS r.(?) p.(=) g.67264081dup - ABCA5(NM_018672.3):c.3144+4dup (p.?) - chr17_007043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-10427G>T VUS r.(?) p.(=) g.67250504C>A - ABCA5(NM_018672.3):c.4196G>T (p.(Gly1399Val)) - chr17_007042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1603A>C VUS r.(?) p.(Lys535Gln) g.67189672T>G - ABCA10(NM_080282.3):c.1603A>C (p.(Lys535Gln)) - chr17_007041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3965G>A likely benign r.(?) p.(Arg1322Gln) g.67149972C>T - ABCA10(NM_080282.3):c.3965G>A (p.(Arg1322Gln)) - chr17_007040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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