All variants in the ST14 gene

Information The variants shown are described using the NM_021978.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

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     
-?/. - c.33G>A r.(?) p.(Gly11=) - likely benign g.130029907G>A - ST14(NM_021978.3):c.33G>A (p.G11=) - ST14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.512G>A r.(?) p.(Arg171His) - likely benign g.130059705G>A g.130189810G>A ST14(NM_021978.3):c.512G>A (p.R171H) - ST14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.635-5C>T r.spl? p.? - likely benign g.130060344C>T g.130190449C>T ST14(NM_021978.3):c.635-5C>T - ST14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.664G>A r.(?) p.(Gly222Ser) - likely benign g.130060378G>A g.130190483G>A ST14(NM_021978.3):c.664G>A (p.G222S) - ST14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.690G>A r.(?) p.(Thr230=) - likely benign g.130060404G>A - ST14(NM_021978.3):c.690G>A (p.T230=) - ST14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.714C>A r.(?) p.(Tyr238Ter) - pathogenic g.130060428C>A g.130190533C>A ST14(NM_021978.3):c.714C>A (p.Y238*) - ST14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.754G>A r.(?) p.(Ala252Thr) - VUS g.130060468G>A g.130190573G>A ST14(NM_021978.3):c.754G>A (p.(Ala252Thr)) - ST14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.782G>A r.(?) p.(Arg261His) - likely benign g.130060496G>A g.130190601G>A ST14(NM_021978.3):c.782G>A (p.R261H) - ST14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.831G>T r.(?) p.(Thr277=) - likely benign g.130060545G>T g.130190650G>T ST14(NM_021978.3):c.831G>T (p.T277=) - ST14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.875+1G>A r.spl? p.? - likely pathogenic g.130060590G>A - ST14(NM_021978.3):c.875+1G>A - ST14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1113+15G>A r.(=) p.(=) - benign g.130064647G>A g.130194752G>A ST14(NM_021978.3):c.1113+15G>A - ST14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1113+15G>A r.(=) p.(=) - benign g.130064647G>A g.130194752G>A ST14(NM_021978.3):c.1113+15G>A - ST14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1215C>T r.(?) p.(Asn405=) - benign g.130066335C>T g.130196440C>T ST14(NM_021978.3):c.1215C>T (p.N405=) - ST14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1215C>T r.(?) p.(Asn405=) - benign g.130066335C>T g.130196440C>T ST14(NM_021978.3):c.1215C>T (p.N405=) - ST14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1224-8_1224-7insA r.(=) p.(=) - likely benign g.130066457_130066458insA g.130196562_130196563insA ST14(NM_021978.3):c.1224-8_1224-7insA - ST14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1224-8_1224-7insT r.(=) p.(=) - likely benign g.130066457_130066458insT g.130196562_130196563insT ST14(NM_021978.3):c.1224-8_1224-7insT, ST14(NM_021978.3):c.1224-8_1224-7insT (p.(=)) - ST14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1224-8_1224-7insT r.(=) p.(=) - likely benign g.130066457_130066458insT g.130196562_130196563insT ST14(NM_021978.3):c.1224-8_1224-7insT, ST14(NM_021978.3):c.1224-8_1224-7insT (p.(=)) - ST14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1224-6dup r.(=) p.(=) - benign g.130066459dup g.130196564dup ST14(NM_021978.3):c.1224-6_1224-5insC, ST14(NM_021978.3):c.1224-6dupC - ST14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1224-6dup r.(=) p.(=) - likely benign g.130066459dup g.130196564dup ST14(NM_021978.3):c.1224-6_1224-5insC, ST14(NM_021978.3):c.1224-6dupC - ST14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1659G>C r.(?) p.(Gly553=) - benign g.130068491G>C g.130198596G>C ST14(NM_021978.3):c.1659G>C (p.G553=) - ST14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1684+7C>T r.(=) p.(=) - likely benign g.130068523C>T g.130198628C>T ST14(NM_021978.3):c.1684+7C>T (p.(=)) - ST14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1729G>A r.(?) p.(Gly577Arg) - likely benign g.130068886G>A g.130198991G>A ST14(NM_021978.3):c.1729G>A (p.(Gly577Arg)) - ST14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1975A>G r.(?) p.(Ile659Val) - likely benign g.130070013A>G g.130200118A>G ST14(NM_021978.3):c.1975A>G (p.(Ile659Val)) - ST14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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