All transcript variants in gene KIAA1217

Information The variants shown are described using the NM_019590.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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.2487G>A likely benign r.(?) p.(=) g.24813282G>A - KIAA1217(NM_019590.4):c.2487G>A (p.T829=) - KIAA1217_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2524A>G VUS r.(?) p.(Lys842Glu) g.24813319A>G - KIAA1217(NM_001098500.1):c.2284A>G (p.(Lys762Glu), p.(Lys807Glu), p.(Lys842Glu)) - KIAA1217_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3638G>C likely benign r.(?) p.(Ser1213Thr) g.24831837G>C - KIAA1217(NM_019590.4):c.3638G>C (p.S1213T) - KIAA1217_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend