All transcript variants in gene ABAT

Information The variants shown are described using the NM_020686.5 transcript reference sequence.

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

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     
-?/. - c.30G>A likely benign r.(=) p.(=) g.8829626G>A - ABAT:c.30G>A (L10=) - ABAT_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.167A>G benign r.(?) p.(Gln56Arg) g.8839954A>G - ABAT:c.167A>G (Q56R) - ABAT_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.169-5T>C benign r.spl? p.? g.8841960T>C - ABAT:c.169-5T>C - ABAT_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.448-15T>A benign r.(=) p.(=) g.8858580T>A - ABAT:c.448-15T>A - ABAT_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.984C>A benign r.(=) p.(=) g.8868776C>A - ABAT:c.984C>A (=) - ABAT_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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