Unique variants in gene FTSJ1

Information The variants shown are described using the NM_012280.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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 _1_13 c.(?_-27715)_(15_*1370)del r.0? p.0? - pathogenic (recessive) g.48307157_48336450del g.48448786_48478079del - - FTSJ1_000019 - PubMed: Froyen 2007 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.-88+3G>A r.spl? p.? - likely benign g.48334787G>A g.48476399G>A FTSJ1(NM_177439.2):c.-194+3G>A - FTSJ1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-87-10C>T r.(=) p.(=) - likely benign g.48336339C>T - FTSJ1(NM_177439.2):c.-87-10C>T - FTSJ1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.71G>A r.(?) p.(Arg24His) - VUS g.48336506G>A g.48478118G>A - - FTSJ1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./., +/. 2 2 c.76G>C r.(?) p.(Ala26Pro) - pathogenic, pathogenic (recessive) g.48336511G>C g.48478123G>C FTSJ1 A26P - FTSJ1_000003 variant functionally analysed PubMed: Hu 2016, PubMed: Guy 2015, Journal: Guy 2015 - - Germline yes - - - - Johan den Dunnen, Marie Shaw
+/. 1 2i c.121+1del r.121_122ins121+2_121+11 p.? - pathogenic (recessive) g.48336557del g.48478169del IVS2+1delG - FTSJ1_000017 - PubMed: Freude 2004 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.157G>A r.(?) p.(Gly53Ser) - likely pathogenic g.48336872G>A g.48478484G>A FTSJ1(NM_012280.2):c.157G>A (p.(Gly53Ser)) - FTSJ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3i c.192-2A>G r.192_282del p.? - pathogenic (recessive) g.48337003A>G g.48478615A>G IVS3-2A>G - FTSJ1_000018 - PubMed: Ramser 2004 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.196C>T r.(?) p.(Gln66*) - pathogenic (recessive) g.48337009C>T g.48478621C>T - - FTSJ1_000016 - PubMed: Freude 2004 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.270G>T r.(?) p.(Gly90=) - likely benign g.48337083G>T g.48478695G>T FTSJ1(NM_177439.2):c.270G>T (p.G90=) - FTSJ1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.304A>T r.(?) p.(Ile102Phe) - VUS g.48337447A>T g.48479059A>T FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)), FTSJ1(NM_177439.2):c.304A>T (p.I102F) - FTSJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., -/. 2 - c.307C>G r.(?) p.(Gln103Glu) - likely benign, benign g.48337450C>G g.48479062C>G FTSJ1(NM_012280.2):c.307C>G (p.(Gln103Glu)), FTSJ1(NM_177439.2):c.307C>G (p.Q103E) - FTSJ1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.325C>T r.(?) p.(Pro109Ser) - likely benign g.48337468C>T g.48479080C>T FTSJ1(NM_177439.2):c.325C>T (p.P109S) - FTSJ1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.334C>G r.(?) p.(Leu112Val) - likely benign g.48337477C>G g.48479089C>G FTSJ1(NM_012280.2):c.334C>G (p.(Leu112Val)) - FTSJ1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.349G>A r.(?) p.(Gly117Arg) - pathogenic g.48337492G>A g.48479104G>A FTSJ1 G117R - FTSJ1_000020 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 2 5i c.362-252G>A r.(?) p.(=) - likely benign g.48339287G>A g.48480899G>A - - FTSJ1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.388T>C r.(?) p.(Tyr130His) - VUS g.48339565T>C g.48481177T>C FTSJ1(NM_012280.2):c.388T>C (p.(Tyr130His)) - FTSJ1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.443A>T r.(?) p.(Lys148Met) - VUS g.48339705A>T g.48481317A>T - - FTSJ1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.495C>T r.(?) p.(Leu165=) - benign g.48339840C>T g.48481452C>T FTSJ1(NM_177439.2):c.495C>T (p.L165=) - FTSJ1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.606C>T r.(?) p.(Pro202=) - likely benign g.48340054C>T - FTSJ1(NM_177439.2):c.606C>T (p.P202=) - FTSJ1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.655G>A r.(?), r.(572_655del) p.(Asp219Asn) - pathogenic, pathogenic (recessive) g.48340103G>A g.48481715G>A Asp219Asn - FTSJ1_000015 VKGL data sharing initiative Nederland, sequence Fig.2 does not show r.572_655del but r.(572_661del PubMed: Freude 2004 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Johan den Dunnen
?/. 1 10 c.706G>A r.(?) p.(Val236Met) - VUS g.48340841G>A g.48482453G>A - - FTSJ1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - - - Lucy Raymond
-?/. 1 10 c.738G>A r.(?) p.(Ser246=) - likely benign g.48340873G>A g.48482485G>A S246S - FTSJ1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - - - Lucy Raymond
-?/. 1 - c.769G>A r.(?) p.(Gly257Ser) - likely benign g.48340994G>A g.48482606G>A FTSJ1(NM_177439.2):c.763G>A (p.G255S) - FTSJ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.786C>T r.(?) p.(Tyr262=) - likely benign g.48341011C>T g.48482623C>T FTSJ1(NM_177439.2):c.780C>T (p.Y260=) - FTSJ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.837G>A r.(?) p.(Thr279=) - likely benign g.48341062G>A g.48482674G>A FTSJ1(NM_177439.2):c.831G>A (p.T277=) - FTSJ1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.957+1G>A r.spl? p.? - likely pathogenic g.48341183G>A g.48482795G>A - - FTSJ1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 12i c.*10-235_*10-234insTAG r.(=) p.(=) - likely benign g.48343889_48343890insTAG g.48485501_48485502insTAG - - FTSJ1_000004 - - - - Germline - - - - - Yu Sun
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