Unique variants in gene WDR46

Information The variants shown are described using the NM_005452.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Reported     

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     
-?/. 1 - c.-703T>C r.(?) p.(=) - likely benign g.33257650A>G g.33289873A>G PFDN6(NM_001185181.2):c.17A>G (p.(Gln6Arg)) - PFDN6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*803C>T r.(=) p.(=) - VUS g.33246250G>A g.33278473G>A B3GALT4(NM_003782.3):c.1054G>A (p.E352K) - B3GALT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend