All variants in the KIAA1217 gene

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

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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.2524A>G r.(?) p.(Lys842Glu) - VUS g.24813319A>G g.24524390A>G KIAA1217(NM_001098500.1):c.2284A>G (p.(Lys762Glu)) - KIAA1217_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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