All transcript variants in gene ELF4

Information The variants shown are described using the NM_001421.3 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.12C>T r.(?) p.(Thr4=) - likely benign g.129215293G>A - ELF4(NM_001421.3):c.12C>T (p.T4=) - ELF4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.76-222dup r.(=) p.(=) - VUS g.129208961dup g.130074986dup - - ELF4_000002 - - - - Germline - - - - - Yu Sun
?/. - c.166G>A r.(?) p.(Asp56Asn) - VUS g.129208637C>T - ELF4(NM_001421.3):c.166G>A (p.D56N) - ELF4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283G>A r.(?) p.(Ala95Thr) - likely benign g.129208081C>T g.130074106C>T ELF4(NM_001421.3):c.283G>A (p.A95T) - ELF4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.367T>A r.(?) p.(Ser123Thr) - likely benign g.129206366A>T g.130072391A>T ELF4(NM_001421.3):c.367T>A (p.S123T) - ELF4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.423C>T r.(?) p.(Pro141=) - likely benign g.129206310G>A g.130072335G>A ELF4(NM_001421.3):c.423C>T (p.P141=) - ELF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.560C>A r.(?) p.(Thr187Asn) - likely benign g.129205367G>T g.130071392G>T ELF4(NM_001127197.1):c.560C>A (p.(Thr187Asn)) - ELF4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.810-4C>G r.spl? p.? - likely benign g.129203656G>C g.130069681G>C ELF4(NM_001127197.1):c.810-4C>G (p.?), ELF4(NM_001421.3):c.810-4C>G - ELF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.810-4C>G r.spl? p.? - likely benign g.129203656G>C g.130069681G>C ELF4(NM_001127197.1):c.810-4C>G (p.?), ELF4(NM_001421.3):c.810-4C>G - ELF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1015del r.(?) p.(Ala339ProfsTer32) - VUS g.129203447del g.130069472del ELF4(NM_001421.3):c.1015delG (p.A339Pfs*32) - ELF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1050G>A r.(?) p.(Lys350=) - likely benign g.129203412C>T g.130069437C>T ELF4(NM_001421.3):c.1050G>A (p.K350=) - ELF4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1069G>A r.(?) p.(Gly357Ser) - VUS g.129203393C>T - ELF4(NM_001421.3):c.1069G>A (p.G357S) - ELF4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1085C>T r.(?) p.(Ala362Val) - VUS g.129203377G>A g.130069402G>A ELF4(NM_001127197.1):c.1085C>T (p.(Ala362Val)) - ELF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 8 c.1107G>A r.(?) p.(=) - likely benign g.129203355C>T g.130069380C>T S369S - ELF4_000013 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1107G>A r.(?) p.(Ser369=) - likely benign g.129203355C>T g.130069380C>T ELF4(NM_001421.3):c.1107G>A (p.S369=) - ELF4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1143C>T r.(?) p.(Leu381=) - likely benign g.129203319G>A g.130069344G>A ELF4(NM_001421.3):c.1143C>T (p.L381=) - ELF4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1144G>A r.(?) p.(Val382Ile) - likely benign g.129203318C>T g.130069343C>T ELF4(NM_001421.3):c.1144G>A (p.V382I) - ELF4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 8 c.1152A>T r.(?) p.(=) - likely benign g.129203310T>A g.130069335T>A P384P - ELF4_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.1187+76dup r.(=) p.(=) - VUS g.129203213dup g.130069238dup - - ELF4_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1187+77del r.(=) p.(=) - VUS g.129203198del g.130069223del - - ELF4_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1352C>G r.(?) p.(Ser451Cys) - VUS g.129201336G>C g.130067361G>C ELF4(NM_001421.3):c.1352C>G (p.S451C) - ELF4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1483C>T r.(?) p.(Arg495Cys) - likely benign g.129201205G>A g.130067230G>A ELF4(NM_001421.3):c.1483C>T (p.R495C) - ELF4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1499C>T r.(?) p.(Ala500Val) - benign g.129201189G>A g.130067214G>A ELF4(NM_001421.3):c.1499C>T (p.A500V) - ELF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 9 c.1509G>A r.(?) p.(=) - likely benign g.129201179C>T g.130067204C>T T503T - ELF4_000011 recurrent, found 54 times PubMed: Tarpey 2009 - - Germline - 54/208 cases - 0 - Lucy Raymond
?/. - c.1535C>T r.(?) p.(Pro512Leu) - VUS g.129201153G>A g.130067178G>A ELF4(NM_001127197.1):c.1535C>T (p.(Pro512Leu)) - ELF4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1810C>T r.(?) p.(Arg604Cys) - likely benign g.129200878G>A g.130066903G>A ELF4(NM_001127197.1):c.1810C>T (p.(Arg604Cys)), ELF4(NM_001421.3):c.1810C>T (p.R604C) - ELF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1810C>T r.(?) p.(Arg604Cys) - likely benign g.129200878G>A g.130066903G>A ELF4(NM_001127197.1):c.1810C>T (p.(Arg604Cys)), ELF4(NM_001421.3):c.1810C>T (p.R604C) - ELF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1849C>G r.(?) p.(Leu617Val) - VUS g.129200839G>C g.130066864G>C ELF4(NM_001127197.1):c.1849C>G (p.(Leu617Val)) - ELF4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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