All variants in the KIAA1875 gene

Information The variants shown are described using the NR_024207.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
-?/. - n.507G>T r.(?) - - likely benign g.145163451G>T - WDR97(NM_001316309.2):c.482G>T (p.(Gly161Val)) - KIAA1875_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - n.1466G>A r.(?) - - VUS g.145164678G>A g.144109775G>A WDR97(NM_001316309.1):c.1441G>A (p.A481T) - KIAA1875_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.4115A>G r.(?) - - VUS g.145169551A>G g.144114648A>G WDR97(NM_001316309.1):c.3887A>G (p.Y1296C) - KIAA1875_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.4368G>A r.(?) - - VUS g.145170306G>A - WDR97(NM_001316309.2):c.4140G>A (p.(Ser1380=)) - KIAA1875_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - n.4760C>T r.(?) - - likely benign g.145170698C>T - WDR97(NM_001316309.2):c.4532C>T (p.(Pro1511Leu)) - KIAA1875_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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