All transcript variants in gene CHUK

Information The variants shown are described using the NM_001278.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-3801A>T likely benign r.(?) p.(=) g.101993090T>A - CWF19L1(NM_018294.4):c.1511A>T (p.(Asp504Val)) - chr10_003852 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-3757_-3755del VUS r.(?) p.(=) g.101993047_101993049del - CWF19L1(NM_018294.5):c.1555_1557del (p.Glu519del) - CWF19L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.26C>T likely benign r.(?) p.(Pro9Leu) g.101989264G>A - CHUK(NM_001278.3):c.26C>T (p.(Pro9Leu)) - chr10_003851 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.139C>T VUS r.(?) p.(Arg47Cys) g.101985741G>A - CHUK(NM_001278.3):c.139C>T (p.(Arg47Cys)) - chr10_003850 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.464T>C likely benign r.(?) p.(Val155Ala) g.101980355A>G - CHUK(NM_001278.3):c.464T>C (p.(Val155Ala)) - chr10_003849 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.802G>A benign r.(?) p.(Val268Ile) g.101977883C>T - CHUK(NM_001278.4):c.802G>A (p.V268I) - CHUK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1559A>G likely benign r.(?) p.(His520Arg) g.101961855T>C - CHUK(NM_001278.3):c.1559A>G (p.(His520Arg)) - CHUK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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