All transcript variants in gene UPF3B

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

28 entries on 1 page. Showing entries 1 - 28.
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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.(Glu11=) - likely benign g.118986859C>T g.119852896C>T UPF3B(NM_080632.2):c.33G>A (p.E11=) - UPF3B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.52A>C r.(?) p.(Thr18Pro) - VUS g.118986840T>G g.119852877T>G UPF3B(NM_023010.3):c.52A>C (p.(Thr18Pro)) - UPF3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.146C>T r.(?) p.(Ala49Val) - likely benign g.118986746G>A g.119852783G>A UPF3B(NM_023010.3):c.146C>T (p.(Ala49Val)) - UPF3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.197A>G r.(?) p.(Gln66Arg) - benign g.118985796T>C g.119851833T>C UPF3B(NM_080632.2):c.197A>G (p.Q66R) - UPF3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.263+2del r.spl? p.? - benign g.118985728del g.119851765del UPF3B(NM_080632.2):c.263+2delT - UPF3B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 2i c.263+19delA r.(?) p.(=) - VUS g.118985711del g.119851748delT - - UPF3B_000009 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - 0 - Yu Sun
?/. 2i c.263+19delA r.(?) p.(=) - VUS g.118985711del g.119851748delT - - UPF3B_000009 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - 0 - Yu Sun
-?/. - c.352G>A r.(?) p.(Val118Ile) - - g.118985476C>T - UPF3B(NM_080632.2):c.352G>A (p.V118I) - chrX_016046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.397T>C r.(?) p.(Phe133Leu) - VUS g.118979233A>G g.119845270A>G - - UPF3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.494A>T r.(?) p.(Glu165Val) - likely benign g.118977240T>A g.119843277T>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 r.(?) p.(Glu165Val) - VUS g.118977240T>A g.119843277T>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) - VUS g.118975174_118975177del g.119841211_119841214del - - UPF3B_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.764G>A r.(?) p.(Arg255Lys) - likely benign g.118975082C>T g.119841119C>T UPF3B(NM_080632.2):c.764G>A (p.R255K) - UPF3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 9 c.906_907del r.(?) p.(Lys303Ilefs*8) - VUS g.118972431_118972432del g.119838468_119838469del 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.(=) - VUS 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 r.(?) p.(Arg358His) - likely benign g.118971949C>T g.119837986C>T UPF3B(NM_080632.2):c.1073G>A (p.R358H) - UPF3B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 10 c.1101G>C r.(?) p.(Lys367Asn) - likely pathogenic g.118971921C>G g.119837958C>G - - UPF3B_000005 - - - - Germline ? - - 0 - Andreas Tzschach
-?/. - c.1118G>A r.(?) p.(Arg373His) - likely benign g.118971904C>T g.119837941C>T UPF3B(NM_023010.3):c.1079G>A (p.(Arg360His)) - UPF3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1121G>A r.(?) p.(Arg374His) - VUS g.118971901C>T g.119837938C>T UPF3B(NM_023010.3):c.1082G>A (p.(Arg361His)) - UPF3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1121G>A r.(?) p.(Arg374His) - VUS g.118971901C>T g.119837938C>T - - UPF3B_000010 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143538947 Germline - 7/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1136G>A r.(?) p.(Arg379His) - likely benign g.118971886C>T g.119837923C>T UPF3B(NM_080632.2):c.1136G>A (p.R379H) - UPF3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1178T>C r.(?) p.(Met393Thr) - likely benign g.118971844A>G g.119837881A>G UPF3B(NM_080632.2):c.1178T>C (p.M393T) - UPF3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1288C>T r.(?) p.(Arg430Ter) - pathogenic g.118971734G>A g.119837771G>A - - UPF3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 10i c.1302+141dup r.(=) p.(=) - VUS g.118971598dup g.119837635dup - - UPF3B_000007 - - - - Germline - - - 0 - Yu Sun
?/. 10i c.1302+142del r.(?) p.(=) - VUS g.118971578del g.119837615del - - UPF3B_000008 - - - - Germline - - - 0 - Yu Sun
?/. 10i c.1303-85T>G r.(?) p.(=) - VUS g.118969075A>C g.119835112A>C - - UPF3B_000006 - PubMed: Almomani 2011 - rs2239963 Germline - - - 0 - Gerard C.P. Schaafsma
./. - c.1310del r.(?) p.(Pro437Glnfs*54) - pathogenic g.118968984del g.119835021del UPF3B P437Qfs*47 - UPF3B_000019 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/? 11 c.1327C>T r.(?) p.(Arg443*) - VUS 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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