Unique variants in the VAX1 gene

Information The variants shown are described using the NM_001112704.1 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.89G>T r.(?) p.(Arg30Leu) - VUS g.118897479C>A - VAX1(NM_199131.2):c.89G>T (p.R30L) - VAX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.126C>T r.(?) p.(Ala42=) - likely benign g.118897442G>A g.117137931G>A VAX1(NM_199131.2):c.126C>T (p.A42=) - VAX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.364dupT r.(?) p.(Cys122Leufs*17) - association g.118896048dup g.117136537dup VAX1 c.364dupT, p.C122fs - VAX1_000008 risk factor; error in annotation p.C122fs is caused by c.364dupT and not 363dupT PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - LOVD
+/. 1 3 c.453_454delinsAA r.(?) p.(Arg152Ser) - pathogenic g.118894070_118894071delinsTT g.117134559_117134560delinsTT 453G>A, 454C>A - VAX1_000001 - PubMed: Slavotinek 2012, Journal: Slavotinek 2012 - - Germline - - - - - Anne Slavotinek
?/. 1 - c.556C>T r.(?) p.(Arg186Cys) - VUS g.118893968G>A - VAX1(NM_001112704.1):c.556C>T (p.R186C) - VAX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.678C>T r.(?) p.(Ala226=) - likely benign g.118893846G>A - VAX1(NM_001112704.1):c.678C>T (p.A226=) - VAX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.*1526dup r.(?) p.(=) - benign g.118892004dup g.117132493dup VAX1(NM_199131.3):c.430-5dupT - VAX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.*1551_*1554del r.(=) p.(=) - pathogenic g.118891967_118891970del g.117132456_117132459del VAX1(NM_199131.2):c.450_453delTGAA (p.E151Dfs*6) - VAX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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