All variants in the CYP4F22 gene

Information The variants shown are described using the NM_173483.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.161G>A r.(?) p.(Arg54His) - - likely benign g.15636308G>A - CYP4F22(NM_173483.3):c.161G>A (p.R54H) - CYP4F22_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.177C>T r.(?) p.(Phe59=) - - benign g.15636324C>T g.15525513C>T - - CYP4F22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.367+5G>A r.spl? p.? - - benign g.15640669G>A g.15529858G>A CYP4F22(NM_173483.3):c.367+5G>A - CYP4F22_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.582G>A r.(?) p.(Ala194=) - - benign g.15648715G>A g.15537904G>A - - CYP4F22_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.989A>T r.(?) p.(Asp330Val) - - VUS g.15654831A>T g.15544020A>T CYP4F22(NM_173483.3):c.989A>T (p.D330V) - CYP4F22_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1303C>T r.(?) p.(His435Tyr) - - pathogenic g.15659981C>T g.15549170C>T - - CYP4F22_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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