All transcript variants in gene UPF3B

Information The variants shown are described using the NM_080632.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.52A>C VUS r.(?) p.(Thr18Pro) g.118986840T>G - UPF3B(NM_023010.3):c.52A>C (p.(Thr18Pro)) - UPF3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.146C>T likely benign r.(?) p.(Ala49Val) g.118986746G>A - UPF3B(NM_023010.3):c.146C>T (p.(Ala49Val)) - UPF3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.197A>G benign r.(?) p.(Gln66Arg) g.118985796T>C - UPF3B(NM_080632.2):c.197A>G (p.Q66R) - UPF3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.263G>A likely benign r.(?) p.(Ser88Asn) g.118985730C>T - UPF3B(NM_023010.3):c.263G>A (p.(Ser88Asn)) - UPF3B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.263+2del benign r.spl? p.? g.118985728del - UPF3B(NM_080632.2):c.263+2delT - UPF3B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 2i c.263+19delA - r.(?) p.(=) g.118985711del g.119851748delT - - UPF3B_000009 - - - - Germline - - - 0 - Yu Sun
?/. 2i c.263+19delA - r.(?) p.(=) g.118985711del g.119851748delT - - UPF3B_000009 - - - - Germline - - - 0 - Yu Sun
-?/. - c.494A>T likely benign r.(?) p.(Glu165Val) g.118977240T>A - UPF3B(NM_080632.2):c.494A>T (p.E165V) - UPF3B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.494A>T VUS r.(?) p.(Glu165Val) g.118977240T>A - UPF3B(NM_080632.2):c.494A>T (p.E165V) - UPF3B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 7 c.674_677del - r.(?) p.(Arg225Lysfs*22) g.118975169_118975172del g.119841206_119841209del - - UPF3B_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.764G>A likely benign r.(?) p.(Arg255Lys) g.118975082C>T - UPF3B(NM_080632.2):c.764G>A (p.R255K) - UPF3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 9 c.906_907del - r.(?) p.(Lys303Ilefs*8) g.118972430_118972431del g.119838467_119838468del NM_023010.2:c.867_868delAG (G290Rfs*2) - UPF3B_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
?/? 9 c.918A>G - r.(?) p.(=) g.118972419T>C g.119838456T>C NM_023010.2:c.879A>G (K293K) - UPF3B_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.1073G>A likely benign r.(?) p.(Arg358His) g.118971949C>T - UPF3B(NM_080632.2):c.1073G>A (p.R358H) - UPF3B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/? 10 c.1101G>C - r.(?) p.(Lys367Asn) g.118971921C>G g.119837958C>G - - UPF3B_000005 - - - - Germline ? - - 0 - Andreas Tzschach
?/. - c.1121G>A VUS r.(?) p.(Arg374His) g.118971901C>T - UPF3B(NM_023010.3):c.1082G>A (p.(Arg361His), p.(Arg374His)) - UPF3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1136G>A likely benign r.(?) p.(Arg379His) g.118971886C>T - UPF3B(NM_080632.2):c.1136G>A (p.R379H) - UPF3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1178T>C likely benign r.(?) p.(Met393Thr) g.118971844A>G - UPF3B(NM_080632.2):c.1178T>C (p.M393T) - UPF3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1288C>T pathogenic r.(?) p.(Arg430*) g.118971734G>A - UPF3B(NM_080632.2):c.1288C>T (p.Arg430*) - UPF3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 10i c.1302+122dup - r.(?) p.(=) g.118971598dup g.119837635dup - - UPF3B_000007 - - - - Germline - - - 0 - Yu Sun
?/. 10i c.1302+142del - r.(?) p.(=) g.118971578del g.119837615del - - UPF3B_000008 - - - - Germline - - - 0 - Yu Sun
?/. 10i c.1303-85T>G - r.(?) p.(=) g.118969075A>C g.119835112A>C - - UPF3B_000006 - PubMed: Almomani 2011 - rs2239963 Germline - - - 0 - Gerard C.P. Schaafsma
./. - c.1309del - r.(?) p.(Pro437Glnfs*54) g.118968984del - UPF3B P437Qfs*47 - UPF3B_000019 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/? 11 c.1327C>T - r.(?) p.(Arg443*) g.118968966G>A g.119835003G>A NM_023010.2:c.1288C>T (R430*) - UPF3B_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
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