Unique variants in gene STK19

Information The variants shown are described using the NM_004197.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

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     
-?/. 1 - c.-6041T>C likely benign r.(?) p.(=) g.31933733T>C - SKIV2L(NM_006929.4):c.2145T>C (p.V715=) - DOM3Z_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-6039T>C VUS r.(?) p.(=) g.31933735T>C - SKIV2L(NM_006929.4):c.2147T>C (p.I716T) - DOM3Z_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-6021G>A VUS r.(?) p.(=) g.31933753G>A - SKIV2L(NM_006929.4):c.2165G>A (p.R722Q) - DOM3Z_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-5300A>G likely benign r.(?) p.(=) g.31934474A>G - SKIV2L(NM_006929.4):c.2203-12A>G - DOM3Z_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4720G>A likely benign r.(?) p.(=) g.31935054G>A - SKIV2L(NM_006929.4):c.2483G>A (p.(Arg828His)) - SKIV2L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4629G>A likely benign r.(?) p.(=) g.31935145G>A - SKIV2L(NM_006929.4):c.2574G>A (p.V858=) - SKIV2L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4060T>C likely benign r.(?) p.(=) g.31935714T>C - SKIV2L(NM_006929.4):c.2732-19T>C - DOM3Z_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4024G>A likely benign r.(?) p.(=) g.31935750G>A - SKIV2L(NM_006929.4):c.2749G>A (p.(Val917Met)) - DOM3Z_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3318T>C VUS r.(?) p.(=) g.31936456T>C - SKIV2L(NM_006929.4):c.3070-7T>C (p.(=)) - SKIV2L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-3297G>A benign r.(?) p.(=) g.31936477G>A - SKIV2L(NM_006929.4):c.3084G>A (p.R1028=) - DOM3Z_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-3106T>C benign r.(?) p.(=) g.31936668T>C - SKIV2L(NM_006929.4):c.3201T>C (p.Y1067=) - SKIV2L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3060_-3059insGCCATGAGCA VUS r.(?) p.(=) g.31936714_31936715insGCCATGAGCA - SKIV2L(NM_006929.4):c.3246_3247insGCCATGAGCA (p.(Leu1089GlnfsTer3)) - DOM3Z_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2600G>A VUS r.(?) p.(=) g.31937174G>A - SKIV2L(NM_006929.4):c.3517G>A (p.V1173I) - SKIV2L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2357G>A likely benign r.(?) p.(=) g.31937417G>A - SKIV2L(NM_006929.4):c.3666G>A (p.L1222=) - DOM3Z_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2332A>G likely benign r.(?) p.(=) g.31937442A>G - SKIV2L(NM_006929.4):c.3691A>G (p.(Thr1231Ala)) - DOM3Z_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.220+5G>A likely benign r.spl? p.? g.31939998G>A - STK19(NM_004197.1):c.220+5G>A (p.?) - STK19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.663+17G>A VUS r.(=) p.(=) g.31946792G>A - STK19(NM_032454.1):c.675+5G>A (p.?) - STK19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.980C>T likely benign r.(?) p.(Ala327Val) g.31948509C>T - STK19(NM_004197.1):c.980C>T (p.(Ala327Val), p.(Ala331Val)) - C4A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*1825C>G benign r.(=) p.(=) g.31950651C>G - C4A(NM_007293.2):c.421C>G (p.L141V) - C4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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