Unique variants in gene FTSJ1

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

26 entries on 1 page. Showing entries 1 - 26.
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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 _1_13 c.(?_-27715)_(15_*1370)del pathogenic (recessive) r.0? p.0? g.48307157_48336450del - - - FTSJ1_000019 - PubMed: Froyen 2007 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.-88+3G>A likely benign r.spl? p.? g.48334787G>A - FTSJ1(NM_177439.2):c.-194+3G>A - FTSJ1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.71G>A VUS r.(?) p.(Arg24His) g.48336506G>A - FTSJ1(NM_012280.3):c.71G>A (p.Arg24His) - FTSJ1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./., +/. 2 2 c.76G>C pathogenic (recessive) r.(?) p.(Ala26Pro) 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 pathogenic (recessive) r.121_122ins121+2_121+11 p.? g.48336557del g.48478169del IVS2+1delG - FTSJ1_000017 - PubMed: Freude 2004 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.157G>A likely pathogenic r.(?) p.(Gly53Ser) g.48336872G>A - FTSJ1(NM_012280.2):c.157G>A (p.(Gly53Ser)) - FTSJ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3i c.192-2A>G pathogenic (recessive) r.192_282del p.? g.48337003A>G g.48478615A>G IVS3-2A>G - FTSJ1_000018 - PubMed: Ramser 2004 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.196C>T pathogenic (recessive) r.(?) p.(Gln66*) g.48337009C>T g.48478621C>T - - FTSJ1_000016 - PubMed: Freude 2004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.304A>T VUS r.(?) p.(Ile102Phe) g.48337447A>T - FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)) - FTSJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.307C>G likely benign, benign r.(?) p.(Gln103Glu) g.48337450C>G - FTSJ1(NM_012280.2):c.307C>G (p.(Gln103Glu)) - FTSJ1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.325C>T likely benign r.(?) p.(Pro109Ser) g.48337468C>T - FTSJ1(NM_177439.2):c.325C>T (p.P109S) - FTSJ1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.334C>G likely benign r.(?) p.(Leu112Val) g.48337477C>G - FTSJ1(NM_012280.2):c.334C>G (p.(Leu112Val)) - FTSJ1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.349G>A - r.(?) p.(Gly117Arg) g.48337492G>A - FTSJ1 G117R - FTSJ1_000020 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 2 5i c.362-252G>A - r.(?) p.(=) g.48339287G>A - - - FTSJ1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.388T>C VUS r.(?) p.(Tyr130His) g.48339565T>C - FTSJ1(NM_012280.2):c.388T>C (p.(Tyr130His)) - FTSJ1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.443A>T VUS r.(?) p.(Lys148Met) g.48339705A>T - FTSJ1(NM_012280.3):c.443A>T (p.Lys148Met) - FTSJ1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.495C>T benign r.(?) p.(=) g.48339840C>T - FTSJ1(NM_177439.2):c.495C>T (p.L165=) - FTSJ1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.572-8C>T likely benign r.(=) p.(=) g.48340012C>T - FTSJ1(NM_012280.2):c.572-8C>T (p.(=)) - FTSJ1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.654C>T likely benign r.(?) p.(=) g.48340102C>T - FTSJ1(NM_012280.2):c.654C>T (p.(=)) - FTSJ1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 9 c.655G>A pathogenic, pathogenic (recessive) r.(?), r.(572_655del) p.(Asp219Asn), p.? g.48340103G>A g.48481715G>A FTSJ1(NM_012280.2):c.655G>A (p.Glu191_Tyr218del), 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, Johan den Dunnen
?/. 1 10 c.706G>A - r.(?) p.(Val236Met) g.48340841G>A - - - FTSJ1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - - - Lucy Raymond
-?/. 1 10 c.738G>A - r.(?) p.(Ser246=) g.48340873G>A - S246S - FTSJ1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - - - Lucy Raymond
-?/. 1 - c.769G>A likely benign r.(?) p.(Gly257Ser) g.48340994G>A - FTSJ1(NM_177439.2):c.763G>A (p.G255S) - FTSJ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.786C>T likely benign r.(?) p.(=) g.48341011C>T - FTSJ1(NM_177439.2):c.780C>T (p.Y260=) - FTSJ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.957+1G>A likely pathogenic r.spl? p.? g.48341183G>A - FTSJ1(NM_012280,NM_177439,NM_001282157):c.957+1G>A (r.spl?) - FTSJ1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 12i c.*10-235_*10-234insTAG - r.(=) p.(=) g.48343889_48343890insTAG - - - FTSJ1_000004 - - - - Germline - - - - - Yu Sun
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